Gene
ndufaf2
- ID
- ZDB-GENE-040808-28
- Name
- NADH:ubiquinone oxidoreductase complex assembly factor 2
- Symbol
- ndufaf2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have NADH dehydrogenase (ubiquinone) activity and electron transfer activity. Predicted to be involved in cellular respiration. Predicted to localize to membrane. Human ortholog(s) of this gene implicated in mitochondrial complex I deficiency. Orthologous to human NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151707 (1 image)
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 |
|---|---|---|---|
| nuclear type mitochondrial complex I deficiency 10 | Alliance | Mitochondrial complex I deficiency, nuclear type 10 | 618233 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Complex I NDUFA12 subunit | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 |
|---|---|---|---|
|
UniProtKB:A9C3R5
|
163 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ndufaf2-201
(1)
|
Ensembl | 1,835 nt |
Interactions and Pathways
No data available
Plasmids
No data available