Gene
sdhaf1
- ID
- ZDB-GENE-050809-56
- Name
- succinate dehydrogenase complex assembly factor 1
- Symbol
- sdhaf1 Nomenclature History
- Previous Names
-
- im:7157855 (1)
- si:ch211-191j22.4
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to be involved in mitochondrial respiratory chain complex II assembly. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in mitochondrial complex II deficiency. Orthologous to human SDHAF1 (succinate dehydrogenase complex assembly factor 1).
- 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:7157855 (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 |
|---|---|---|---|
| Mitochondrial complex II deficiency, nuclear type 2 | 619166 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Complex 1 LYR protein domain | SDHAF1, LYR domain | Succinate Dehydrogenase Assembly Factor 1 |
|---|---|---|---|---|
|
UniProtKB:E9QI43
|
87 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sdhaf1-201
(1)
|
Ensembl | 2,139 nt | ||
| mRNA |
sdhaf1-202
(1)
|
Ensembl | 291 nt |
Interactions and Pathways
No data available
Plasmids
No data available