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
- Predicted to have choline:sodium symporter activity. Predicted to be involved in acetylcholine biosynthetic process; chemical synaptic transmission; and choline transport. Predicted to localize to several cellular components, including axon; dendrite; and perikaryon. 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
- All Expression Data
- 2 figures from Hong et al., 2013
- Cross-Species Comparison
- High Throughput Data
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