NDUFAB1
protein-codingNADH:ubiquinone oxidoreductase subunit AB1, the group of NADH:ubiquinone oxidoreductase supernumerary subunits
Gene summary
Enables mitochondrial large ribosomal subunit binding activity and structural molecule activity. Involved in [2Fe-2S] cluster assembly; mitochondrial large ribosomal subunit assembly; and protein lipoylation. Located in mitochondrial inner membrane. Part of mitochondrial [2Fe-2S] assembly complex and respiratory chain complex I. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~15.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to NDUFAB1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_005003.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 30 | 2 | 1 | 33 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 30 | 2 | 2 | 34 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_004994.1 | 4 | MANE Select | |
| Ensembl | ENSP00000007516.2 | 4 | MANE Select | |
| Ensembl | ENSP00000454812.1 | 2 | Standard | |
| Ensembl | ENSP00000454891.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- 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)
Biological Process
- mitochondrial electron transport, NADH to ubiquinone
- fatty acid biosynthetic process
- protein lipoylation
- mitochondrial respiratory chain complex I assembly
Molecular Function
- acyl binding
- acyl carrier activity
- fatty acid binding
- calcium ion binding
- protein binding
Cellular Component
- nucleoplasm
- mitochondrion
- mitochondrial inner membrane
- mitochondrial respiratory chain complex I
- mitochondrial matrix
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000570319
- Coding exons
- 4
- Length
- 15355
- Individuals with no LoFs
- 125738
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 125739
- p
- 0.00000398
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.159 | 82 | 86.2 | 0.952 | 0.00000447 | 994 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0000088 | 0.0000088 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.439
Intolerance Scores
- LoFtool
- 0.136
- RVIS EVS
- -0.21
- RVIS percentile EVS
- 38.28
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- E
- Essential (gene trap)
- E
- Indispensability pred.
- N
- Indispensability score
- 0.496
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |