NDUFAF6 Gene Summary [Human]
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Details
| Type | Protein Coding |
| Official Symbol | NDUFAF6 |
| Official Name | NADH:ubiquinone oxidoreductase complex assembly factor 6 [Source:HGNC Symbol;Acc:HGNC:28625] |
| Ensembl ID | ENSG00000156170 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase complex assembly factor 6 |
| Synonyms | 2310030N02Rik, C8orf38, FRTS5, HSALNG0067060, HSALNG0067063, lnc-INTS8-1, LOC101927002, MC1DN17, NADH:ubiquinone oxidoreductase complex assembly factor 6, NONHSAG050800, NONHSAG050801, NONHSAG050802, NONHSAG050804, RGD1309085, RP11 347C183, RP11-347C18.3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NDUFAF6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Isoprenoid Biosynthesis enzymes, Class 1
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cardiovascular disorder
- coronary artery disease
- diabetes mellitus
- non-insulin-dependent diabetes mellitus
- neoplasia
- Alzheimer disease
- Fanconi renotubular syndrome type 5
- prostate cancer
- hereditary disorder
- psoriasis
role in cell
- phosphorylation in
- proliferation
- formation
- formation in
- binding in
- damage in
- progression in
- progression
- G2 phase
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFAF6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial respiratory chain complex I assembly
- biosynthetic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- mitochondrial inner membrane