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 act upstream of or within biosynthetic process. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in Fanconi renotubular syndrome 5 and nuclear type mitochondrial complex I deficiency 17. 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