Gene
slc25a46
- ID
- ZDB-GENE-040718-296
- Name
- solute carrier family 25 member 46
- Symbol
- slc25a46 Nomenclature History
- Previous Names
-
- zgc:92767
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Acts upstream of or within axon development and mitochondrial fission. Located in neuron projection. Is expressed in brain and eye. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 1E. Orthologous to human SLC25A46 (solute carrier family 25 member 46).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92767 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 6 | Alliance | Neuropathy, hereditary motor and sensory, type VIB | 616505 |
| pontocerebellar hypoplasia type 1E | Alliance | Pontocerebellar hypoplasia, type 1E | 619303 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Mitochondrial carrier domain superfamily | Mitochondrial substrate/solute carrier | Solute carrier family 25 member 46 |
|---|---|---|---|---|
|
UniProtKB:Q6DGU5
|
405 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc25a46-201
(1)
|
Ensembl | 2,053 nt |
Interactions and Pathways
No data available
Plasmids
No data available