NDUFAF7 Chromosome 2
NADH:ubiquinone oxidoreductase complex assembly factor 7
Upload your DNA to see your personal genotypes for variants in NDUFAF7.
What This Gene Does
This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|7BS protein arginine methyltranferases|Arginine methyltransferases"
Locus Type
gene with protein product
Location
2p22.2
Ensembl
ENSG00000003509
Key Variants
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS562848214 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS73927405 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756442818 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553354119 | Health Risk | Likely pathogenic | — |
| RS750543865 | Health Risk | Likely pathogenic | — |