Gene
slc6a8
- ID
- ZDB-GENE-071024-2
- Name
- solute carrier family 6 member 8
- Symbol
- slc6a8 Nomenclature History
- Previous Names
-
- ct1 (1)
- chot1
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have gamma-aminobutyric acid:sodium symporter activity and neurotransmitter binding activity. Predicted to localize to neuron projection and plasma membrane. Human ortholog(s) of this gene implicated in creatine transporter deficiency and intellectual disability. Is expressed in several structures, including digestive system; eye; heart; optic vesicle; and pleuroperitoneal region. Orthologous to human SLC6A8 (solute carrier family 6 member 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 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 |
|---|---|---|---|
| cerebral creatine deficiency syndrome 1 | Alliance | Cerebral creatine deficiency syndrome 1 | 300352 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Sodium:neurotransmitter symporter | Sodium:neurotransmitter symporter superfamily |
|---|---|---|---|
|
UniProtKB:A0A8M1P953
|
652 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc6a8-201
(1)
|
Ensembl | 2,126 nt |
Interactions and Pathways
No data available
Plasmids
No data available