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 enable choline:sodium symporter activity. Predicted to be involved in acetylcholine biosynthetic process; chemical synaptic transmission; and choline transport. Predicted to act upstream of or within transmembrane transport. Predicted to be located in membrane. Predicted to be active in several cellular components, including axon; dendrite; and perikaryon. Is expressed in brain; dorsal habenular nucleus; midbrain; spinal cord; and spinal cord neural tube. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 20; distal hereditary motor neuronopathy type 7A; and mental depression. Orthologous to human SLC5A7 (solute carrier family 5 member 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- 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