Gene
slc24a5
- ID
- ZDB-GENE-031210-1
- Name
- solute carrier family 24 member 5
- Symbol
- slc24a5 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable calcium channel activity and calcium, potassium:sodium antiporter activity. Acts upstream of or within eye pigmentation; melanocyte differentiation; and melanocyte migration. Predicted to be located in Golgi apparatus; melanosome; and membrane. Predicted to be active in trans-Golgi network. Is expressed in female organism; gill; male organism; melanocyte; and presumptive retinal pigmented epithelium. Human ortholog(s) of this gene implicated in oculocutaneous albinism type VI. Orthologous to human SLC24A5 (solute carrier family 24 member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 20 figures from 14 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| oculocutaneous albinism type VI | Alliance | Albinism, oculocutaneous, type VI | 113750 |
| oculocutaneous albinism type VI | Alliance | [Skin/hair/eye pigmentation 4, fair/dark skin] | 113750 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | NCX, central ion-binding domain superfamily | Sodium/calcium exchanger membrane region | Sodium/potassium/calcium exchanger |
|---|---|---|---|---|---|
| UniProtKB:Q49SH1 | InterPro | 513 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc24a5-201
(1)
|
Ensembl | 2,003 nt |
Interactions and Pathways
No data available
Plasmids