Gene
slc19a3a
- ID
- ZDB-GENE-110411-41
- Name
- solute carrier family 19 member 3a
- Symbol
- slc19a3a Nomenclature History
- Previous Names
-
- si:ch211-158n6.4
- unm_sa981
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have vitamin transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in biotin-responsive basal ganglia disease. Orthologous to human SLC19A3 (solute carrier family 19 member 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| biotin-responsive basal ganglia disease | Alliance | Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) | 607483 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | MFS transporter superfamily | Reduced folate carrier |
|---|---|---|---|
|
UniProtKB:E7F6V3
|
501 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc19a3a-201
(1)
|
Ensembl | 2,115 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance