MPZ
myelin protein zero, the group of V-set domain containing|Ig-like cell adhesion molecule family
Basic information
Region (hg38): 1:161304735-161309968
Previous symbols: [ "CMT1", "CMT1B" ]
Links
Phenotypes
GenCC
Source:
- Charcot-Marie-Tooth disease type 3 (Supportive), mode of inheritance: AD
- Charcot-Marie-Tooth disease type 2I (Supportive), mode of inheritance: AD
- Charcot-Marie-Tooth disease type 2J (Supportive), mode of inheritance: AD
- Charcot-Marie-Tooth disease dominant intermediate D (Supportive), mode of inheritance: AD
- Charcot-Marie-Tooth disease type 1B (Supportive), mode of inheritance: AD
- autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (Supportive), mode of inheritance: AD
- Charcot-Marie-Tooth disease type 1B (Definitive), mode of inheritance: AD
- neuropathy, congenital hypomyelinating, 2 (Definitive), mode of inheritance: AD
- Charcot-Marie-Tooth disease type 1B (Strong), mode of inheritance: AD
- Charcot-Marie-Tooth disease (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Charcot-Marie-Tooth disease, dominant intermediate 3; Charcot-Marie-Tooth disease, axonal, type 2J; Charcot-Marie-Tooth disease, axonal, type 2I; Neuropathy, congenital hypomyelinating 1; Roussy-Levy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease, demyelinating, type 1B; Hypomyelinating neuropathy, congenital, 2 | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 7693129; 8310815; 8664899; 8816708; 9595994; 9537424; 10319895; 10329755; 10071056; 10406984; 10214757; 10553995; 10965800; 11080237; 10764043; 11835375; 14638973; 15159512; 15184631; 15326256; 15642860; 16488608; 16775239; 17663472; 17825553; 21326314; 21280073; 22222859; 22622165; 22633464; 22691094; 22734905 |
| Individuals with biallelic variants have also been described |
ClinVar
This is a list of variants' phenotypes submitted to
- Charcot-Marie-Tooth disease, type I (61 variants)
- Charcot-Marie-Tooth disease (33 variants)
- not provided (29 variants)
- Charcot-Marie-Tooth disease type 1B (18 variants)
- Inborn genetic diseases (8 variants)
- Dejerine-Sottas disease (4 variants)
- 7 conditions (3 variants)
- Charcot-Marie-Tooth disease type 2J (3 variants)
- Dejerine-Sottas syndrome, autosomal dominant (2 variants)
- Charcot-Marie-Tooth disease type 2I (2 variants)
- MPZ-related disorder (2 variants)
- Distal hereditary motor neuropathy type 2 (1 variants)
- Roussy-Lévy syndrome (1 variants)
- Charcot-Marie-Tooth disease dominant intermediate D (1 variants)
- Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths (1 variants)
- Neuropathy, congenital hypomyelinating, 2 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPZ gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 54 | 62 | ||||
| missense | 32 | 52 | 195 | 279 | ||
| nonsense | 16 | 18 | ||||
| start loss | 1 | |||||
| frameshift | 19 | 13 | 35 | |||
| inframe indel | 10 | |||||
| splice donor/acceptor (+/-2bp) | 12 | 17 | ||||
| splice region | 11 | 9 | 1 | 21 | ||
| non coding | 15 | 30 | 54 | |||
| Total | 76 | 84 | 223 | 84 | 9 |
Highest pathogenic variant AF is 0.0000460
Variants in MPZ
This is a list of pathogenic ClinVar variants found in the MPZ region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-161304802-T-G | Roussy-Lévy syndrome • Charcot-Marie-Tooth disease dominant intermediate D • Charcot-Marie-Tooth disease type 1B • Charcot-Marie-Tooth disease type 4E • Neuropathy, congenital hypomyelinating, 2 | Uncertain significance (Jan 13, 2018) | ||
| 1-161304828-T-A | Charcot-Marie-Tooth disease type 4E • Charcot-Marie-Tooth disease type 1B • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease dominant intermediate D • Neuropathy, congenital hypomyelinating, 2 | Conflicting classifications of pathogenicity (May 01, 2023) | ||
| 1-161304856-C-T | Charcot-Marie-Tooth disease type 4E • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease dominant intermediate D • Charcot-Marie-Tooth disease type 1B • Neuropathy, congenital hypomyelinating, 2 | Uncertain significance (Jan 13, 2018) | ||
| 1-161304922-G-T | Charcot-Marie-Tooth disease type 1B • Charcot-Marie-Tooth disease dominant intermediate D • Charcot-Marie-Tooth disease type 4E • Roussy-Lévy syndrome • Neuropathy, congenital hypomyelinating, 2 | Uncertain significance (Jan 12, 2018) | ||
| 1-161304965-T-TTCTC | Charcot-Marie-Tooth disease, type I • Charcot-Marie-Tooth, Intermediate • Charcot-Marie-Tooth disease type 4E • Roussy-Lévy syndrome | Benign (May 13, 2021) | ||
| 1-161304973-C-T | Roussy-Lévy syndrome • Neuropathy, congenital hypomyelinating, 2 • Charcot-Marie-Tooth disease type 1B • Charcot-Marie-Tooth disease dominant intermediate D | Uncertain significance (Jan 13, 2018) | ||
| 1-161305018-A-G | Charcot-Marie-Tooth, Intermediate • Charcot-Marie-Tooth disease, type I • Charcot-Marie-Tooth disease type 4E • Roussy-Lévy syndrome | Uncertain significance (Jun 14, 2016) | ||
| 1-161305115-T-C | Charcot-Marie-Tooth disease type 1B • Charcot-Marie-Tooth disease dominant intermediate D • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease type 4E • Neuropathy, congenital hypomyelinating, 2 | Benign (May 13, 2021) | ||
| 1-161305124-C-T | Charcot-Marie-Tooth disease type 1B • Roussy-Lévy syndrome • Neuropathy, congenital hypomyelinating, 2 • Charcot-Marie-Tooth disease dominant intermediate D | Uncertain significance (Jan 12, 2018) | ||
| 1-161305133-G-A | Charcot-Marie-Tooth disease type 4E • Charcot-Marie-Tooth disease type 1B • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease dominant intermediate D • Neuropathy, congenital hypomyelinating, 2 | Conflicting classifications of pathogenicity (Jan 13, 2018) | ||
| 1-161305195-T-A | Charcot-Marie-Tooth disease type 1B • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease type 4E • Charcot-Marie-Tooth disease dominant intermediate D • Neuropathy, congenital hypomyelinating, 2 | Uncertain significance (Jan 13, 2018) | ||
| 1-161305252-G-A | Charcot-Marie-Tooth disease dominant intermediate D • Charcot-Marie-Tooth disease type 4E • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease type 1B • Neuropathy, congenital hypomyelinating, 2 | Benign/Likely benign (May 13, 2021) | ||
| 1-161305308-G-C | Charcot-Marie-Tooth disease type 4E • Charcot-Marie-Tooth disease type 1B • Charcot-Marie-Tooth disease dominant intermediate D • Roussy-Lévy syndrome • Neuropathy, congenital hypomyelinating, 2 | Benign/Likely benign (May 13, 2021) | ||
| 1-161305354-G-T | Neuropathy, congenital hypomyelinating, 2 • Charcot-Marie-Tooth disease type 1B • Charcot-Marie-Tooth disease dominant intermediate D • Roussy-Lévy syndrome | Uncertain significance (Jan 13, 2018) | ||
| 1-161305441-A-C | Roussy-Lévy syndrome • Neuropathy, congenital hypomyelinating, 2 • Charcot-Marie-Tooth disease dominant intermediate D • Charcot-Marie-Tooth disease type 1B | Uncertain significance (Apr 27, 2017) | ||
| 1-161305507-G-A | Roussy-Lévy syndrome • Neuropathy, congenital hypomyelinating, 2 • Charcot-Marie-Tooth disease dominant intermediate D • Charcot-Marie-Tooth disease type 1B | Uncertain significance (Jan 12, 2018) | ||
| 1-161305516-G-C | Charcot-Marie-Tooth disease type 1B • Charcot-Marie-Tooth disease dominant intermediate D • Neuropathy, congenital hypomyelinating, 2 • Roussy-Lévy syndrome | Conflicting classifications of pathogenicity (Aug 24, 2021) | ||
| 1-161305535-T-C | Roussy-Lévy syndrome • Neuropathy, congenital hypomyelinating, 2 • Charcot-Marie-Tooth disease dominant intermediate D • Charcot-Marie-Tooth disease type 1B | Uncertain significance (Jan 12, 2018) | ||
| 1-161305625-G-C | Charcot-Marie-Tooth disease dominant intermediate D • Charcot-Marie-Tooth disease type 4E • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease type 1B • Neuropathy, congenital hypomyelinating, 2 | Uncertain significance (Jan 13, 2018) | ||
| 1-161305681-C-A | Charcot-Marie-Tooth disease type 1B • Charcot-Marie-Tooth disease dominant intermediate D • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease type 4E • Neuropathy, congenital hypomyelinating, 2 • MPZ-related disorder | Conflicting classifications of pathogenicity (Apr 01, 2024) | ||
| 1-161305719-G-C | MPZ-related disorder | Likely benign (Jun 27, 2024) | ||
| 1-161305774-G-A | Neuropathy, congenital hypomyelinating, 2 • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease type 1B • Charcot-Marie-Tooth disease dominant intermediate D | Uncertain significance (Jan 13, 2018) | ||
| 1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT | Charcot-Marie-Tooth disease type 1B | Likely pathogenic (Sep 17, 2015) | ||
| 1-161305824-C-T | Charcot-Marie-Tooth disease type 1B • Roussy-Lévy syndrome • Charcot-Marie-Tooth disease dominant intermediate D • Charcot-Marie-Tooth disease type 4E • Neuropathy, congenital hypomyelinating, 2 | Conflicting classifications of pathogenicity (Jan 13, 2018) | ||
| 1-161305851-G-C | MPZ-related disorder | Likely benign (May 24, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MPZ | protein_coding | protein_coding | ENST00000533357 | 6 | 5238 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.272 | 0.724 | 125741 | 0 | 7 | 125748 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.987 | 109 | 142 | 0.767 | 0.00000779 | 1594 |
| Missense in Polyphen | 22 | 42.105 | 0.5225 | 475 | ||
| Synonymous | 1.08 | 48 | 58.5 | 0.820 | 0.00000342 | 508 |
| Loss of Function | 2.43 | 3 | 12.2 | 0.247 | 5.21e-7 | 138 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000617 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000529 | 0.0000527 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction. {ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:18337304}.;
- Disease
- DISEASE: Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. {ECO:0000269|PubMed:10214757, ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:10965800, ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:11445635, ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12207932, ECO:0000269|PubMed:12221176, ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:12707985, ECO:0000269|PubMed:12845552, ECO:0000269|PubMed:14711881, ECO:0000269|PubMed:15036333, ECO:0000269|PubMed:16488608, ECO:0000269|PubMed:18337304, ECO:0000269|PubMed:7504284, ECO:0000269|PubMed:7505151, ECO:0000269|PubMed:7527371, ECO:0000269|PubMed:7530774, ECO:0000269|PubMed:7550231, ECO:0000269|PubMed:7688964, ECO:0000269|PubMed:7693129, ECO:0000269|PubMed:7693130, ECO:0000269|PubMed:7694726, ECO:0000269|PubMed:8664899, ECO:0000269|PubMed:8797476, ECO:0000269|PubMed:8816708, ECO:0000269|PubMed:8835320, ECO:0000269|PubMed:8844219, ECO:0000269|PubMed:8990016, ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9217235, ECO:0000269|PubMed:9452091, ECO:0000269|PubMed:9452099, ECO:0000269|PubMed:9633821, ECO:0000269|Ref.40}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:14638973, ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:9595994}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil. {ECO:0000269|PubMed:10071056, ECO:0000269|PubMed:11080237, ECO:0000269|PubMed:15326256, ECO:0000269|PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J. {ECO:0000269|PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269|PubMed:10406984}. Note=The disease may be caused by mutations affecting the gene represented in this entry.; DISEASE: Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:11596785, ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:7506095, ECO:0000269|PubMed:8630052, ECO:0000269|PubMed:8816708, ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9222756, ECO:0000269|PubMed:9452055, ECO:0000269|PubMed:9452091, ECO:0000269|PubMed:9633821}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:15184631}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. {ECO:0000269|PubMed:10553995}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Cell adhesion molecules (CAMs) - Homo sapiens (human);Neural Crest Differentiation
(Consensus)
Recessive Scores
- pRec
- 0.0931
Intolerance Scores
- loftool
- 0.157
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.28
Haploinsufficiency Scores
- pHI
- 0.729
- hipred
- Y
- hipred_score
- 0.715
- ghis
- 0.572
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.621
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mpz
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Gene ontology
- Biological process
- chemical synaptic transmission;myelination;negative regulation of apoptotic process;cell-cell adhesion via plasma-membrane adhesion molecules;cell aggregation
- Cellular component
- lysosome;rough endoplasmic reticulum;plasma membrane;integral component of plasma membrane;basolateral plasma membrane;myelin sheath
- Molecular function
- structural molecule activity