Gene
ttpa
- ID
- ZDB-GENE-030131-4631
- Name
- tocopherol (alpha) transfer protein
- Symbol
- ttpa Nomenclature History
- Previous Names
-
- wu:fd44e05
- zgc:66361
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have lipid transfer activity; phosphatidylinositol bisphosphate binding activity; and vitamin E binding activity. Involved in central nervous system development and chordate embryonic development. Predicted to localize to late endosome. Human ortholog(s) of this gene implicated in familial isolated deficiency of vitamin E. Is expressed in several structures, including eye; immature eye; liver; neural tube; and tail bud. Orthologous to human TTPA (alpha tocopherol transfer protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66361 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Miller et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial isolated deficiency of vitamin E | Alliance | Ataxia with isolated vitamin E deficiency | 277460 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CRAL-TRIO lipid binding domain | CRAL-TRIO lipid binding domain superfamily | CRAL/TRIO, N-terminal domain | CRAL/TRIO, N-terminal domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:B0S5J5
|
285 |
Interactions and Pathways
No data available
Plasmids
No data available