Gene
chm
- ID
- ZDB-GENE-030318-2
- Name
- CHM Rab escort protein
- Symbol
- chm Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Exhibits Rab geranylgeranyltransferase activity. Involved in several processes, including detection of mechanical stimulus involved in sensory perception of sound; iridophore differentiation; and sensory organ development. Predicted to localize to Rab-protein geranylgeranyltransferase complex; cytosol; and nucleus. Used to study choroideremia. Human ortholog(s) of this gene implicated in choroideremia. Orthologous to human CHM (CHM Rab escort protein).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:109728 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 31 figures from 12 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
choroideremia | Alliance | Choroideremia | 303100 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
choroideremia | chmru848/ru848 (AB) | standard conditions | Lima Cunha et al., 2021 |
choroideremia | chmru848/ru848 (AB) | standard conditions | (2) |
choroideremia | chmru848/ru848 | standard conditions | (4) |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | FAD/NAD(P)-binding domain superfamily | GDP dissociation inhibitor | Rab protein geranylgeranyltransferase component A |
---|---|---|---|---|
UniProtKB:Q6RFG0
|
666 |
Interactions and Pathways
No data available
Plasmids
No data available