NDUFAB1

NADH:ubiquinone oxidoreductase subunit AB1, the group of NADH:ubiquinone oxidoreductase supernumerary subunits

Basic information

Region (hg38): 16:23581013-23596316

Links

ENSG00000004779 ∙ NCBI:4706 ∙ OMIM:603836 ∙ HGNC:7694 ∙ Uniprot:O14561 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NDUFAB1 gene.

• Inborn genetic diseases (7 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NDUFAB1 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					1	1
missense			7		1	8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	2

Variants in NDUFAB1

This is a list of pathogenic ClinVar variants found in the NDUFAB1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-23582313-T-C		not specified	Uncertain significance (Apr 17, 2023)
16-23587199-T-C		not specified	Uncertain significance (Nov 08, 2022)
16-23587243-C-T		not specified	Uncertain significance (Jun 21, 2023)
16-23587263-C-T			Benign (Apr 02, 2018)
16-23587292-G-A		not specified	Uncertain significance (Dec 01, 2022)
16-23596185-G-C		not specified	Uncertain significance (Sep 26, 2022)
16-23596192-G-T		not specified	Uncertain significance (Feb 06, 2024)
16-23596200-G-T		not specified	Uncertain significance (Jul 13, 2021)
16-23596226-C-A		not specified	Uncertain significance (Dec 20, 2023)
16-23596251-G-A			Benign (Apr 10, 2018)
16-23596254-G-C		not specified	Uncertain significance (Jan 16, 2024)
16-23596275-G-A		not specified	Uncertain significance (Oct 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NDUFAB1	protein_coding	protein_coding	ENST00000570319	4	15355

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.527	0.459	125738	0	1	125739	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.159	82	86.2	0.952	0.00000447	994
Missense in Polyphen		10	20.215	0.49467		324
Synonymous	0.123	34	34.9	0.973	0.00000184	303
Loss of Function	1.96	1	6.33	0.158	2.65e-7	85

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). {ECO:0000250|UniProtKB:P52505, ECO:0000269|PubMed:27626371}.
• Pathway: Retrograde endocannabinoid signaling - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Metformin Pathway, Pharmacodynamic;Electron Transport Chain;Oxidative phosphorylation;Metabolism of lipids;Metabolism of amino acids and derivatives;Respiratory electron transport;Mitochondrial Fatty Acid Beta-Oxidation;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;Fatty acid metabolism;Glyoxylate metabolism and glycine degradation;Complex I biogenesis;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (Consensus)

Recessive Scores

• pRec: 0.439

Intolerance Scores

• loftool: 0.136
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.28

Haploinsufficiency Scores

• pHI: 0.224
• hipred: Y
• hipred_score: 0.550
• ghis: 0.551

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.496

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ndufab1

Gene ontology

• Biological process: mitochondrial electron transport, NADH to ubiquinone;fatty acid biosynthetic process;protein lipoylation;mitochondrial respiratory chain complex I assembly
• Cellular component: nucleoplasm;mitochondrion;mitochondrial inner membrane;mitochondrial respiratory chain complex I;mitochondrial matrix;mitochondrial large ribosomal subunit;mitochondrial membrane
• Molecular function: acyl binding;acyl carrier activity;fatty acid binding;calcium ion binding;protein binding;NADH dehydrogenase (ubiquinone) activity