MYMX

myomixer, myoblast fusion factor

Basic information

Region (hg38): 6:44216926-44218236

Links

ENSG00000262179 ∙ NCBI:101929726 ∙ OMIM:619912 ∙ HGNC:52391 ∙ Uniprot:A0A1B0GTQ4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Carey-Fineman-Ziter syndrome 2	AR	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	Craniofacial; Musculoskeletal; Neurologic	35642635

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYMX gene.

• Carey-Fineman-Ziter_syndrome_2 (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYMX gene is commonly pathogenic or not. These statistics are base on transcript: NM_001315494.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense	2					2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	2	0	0	0	0

Highest pathogenic variant AF is 0.000007470045

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Probably acts by mediating the mixing of cell membranes. Associates with MYMK to promote myoblast fusion. {ECO:0000250|UniProtKB:Q2Q5T5}.

Gene ontology

• Biological process: myoblast fusion;plasma membrane fusion;skeletal muscle organ development
• Cellular component: Golgi membrane;endoplasmic reticulum membrane;plasma membrane