Gene
slc5a7a
- ID
- ZDB-GENE-090313-273
- Name
- solute carrier family 5 member 7a
- Symbol
- slc5a7a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Is predicted to enable choline:sodium symporter activity. Involved in acetylcholine biosynthetic process; chemical synaptic transmission; and choline transport. Acts upstream of or within transmembrane transport. Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in dorsal habenular nucleus. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 20 and distal hereditary motor neuronopathy type 7A. Orthologous to human SLC5A7 (solute carrier family 5 member 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Hong et al., 2013
- 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 |
|---|---|---|---|
| congenital myasthenic syndrome 20 | Alliance | Myasthenic syndrome, congenital, 20, presynaptic | 617143 |
| distal hereditary motor neuronopathy type 7A | Alliance | Neuronopathy, distal hereditary motor, type VIIA | 158580 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Sodium/glucose symporter superfamily | Sodium/solute symporter |
|---|---|---|---|
|
UniProtKB:F1Q620
|
592 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
slc5a7a-201
(1)
|
5150 nt |
Interactions and Pathways
No data available
Plasmids
No data available