Gene
hccsa.2
- ID
- ZDB-GENE-090501-4
- Name
- holocytochrome c synthase a, tandem duplicate 2
- Symbol
- hccsa.2 Nomenclature History
- Previous Names
-
- hccsal
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable holocytochrome-c synthase activity. Predicted to act upstream of or within protein phosphorylation. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in linear skin defects with multiple congenital anomalies 1 and microphthalmia. Orthologous to human HCCS (holocytochrome c synthase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| linear skin defects with multiple congenital anomalies 1 | Alliance | Linear skin defects with multiple congenital anomalies 1 | 309801 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Holocytochrome c/c1 synthase | Protein kinase domain | Protein kinase-like domain superfamily |
|---|---|---|---|---|
|
UniProtKB:A0A8M6YUX6
|
293 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hccsa.2-201
(1)
|
Ensembl | 435 nt |
Interactions and Pathways
No data available
Plasmids
No data available