Gene
ndufaf6
- ID
- ZDB-GENE-100112-1
- Name
- NADH:ubiquinone oxidoreductase complex assembly factor 6
- Symbol
- ndufaf6 Nomenclature History
- Previous Names
-
- gb:bc097249 (1)
- si:ch211-233e16.1
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to be involved in mitochondrial respiratory chain complex I assembly. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in mitochondrial complex I deficiency. Orthologous to human NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lam et al., 2011
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Fanconi renotubular syndrome 5 | Alliance | Fanconi renotubular syndrome 5 | 618913 |
| nuclear type mitochondrial complex I deficiency 17 | Alliance | Mitochondrial complex I deficiency, nuclear type 17 | 618239 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Isoprenoid synthase domain superfamily | Squalene/phytoene synthase |
|---|---|---|---|
|
UniProtKB:A0A8M9P823
|
349 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ndufaf6-201
(1)
|
Ensembl | 1,108 nt |
Interactions and Pathways
No data available
Plasmids
No data available