TTPA Gene Summary [Human]
This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009]
Details
| Type | Processed Transcript |
| Official Symbol | TTPA |
| Official Name | alpha tocopherol transfer protein [Source:HGNC Symbol;Acc:HGNC:12404] |
| Ensembl ID | ENSG00000137561 |
| Bio databases IDs | |
| Aliases | alpha tocopherol transfer protein |
| Synonyms | alpha tocopherol transfer, alpha tocopherol transfer protein, alpha-TTP, ATTP, AVED, LOC100909929, tocopherol (alpha) transfer protein, tocopherol (α) transfer protein, TTP, TTP1, α tocopherol transfer, α tocopherol transfer protein, α-TTP |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TTPA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- Domain in homologues of a S
- vitamin binding
- CRAL/TRIO, N-terminal domain
- binding protein
- phosphatidylinositol-4,5-bisphosphate binding
- tocopherol binding
- CRAL/TRIO domain
- protein binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoplasia
- atherosclerosis
- ataxia with isolated vitamin E deficiency
- hereditary disorder
- neurodegeneration
- paresis
- retinal dystrophy
- dystonia
- tremor
- ataxia with isolated vitamin E deficiency and retinitis pigmentosa
role in cell
- proliferation
- apoptosis
- activation in
- number
- cytotoxic reaction
- accumulation in
- response
- size
- acidification
- vacuolation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
- late endosomes
- rod outer segments
- rod inner segments
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TTPA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of establishment of blood-brain barrier
- vitamin E metabolic process
- lipid metabolic process
- positive regulation of beta-amyloid clearance
- vitamin transport
- response to toxin
- embryonic placenta development
Cellular Component
Where in the cell the gene product is active
- late endosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
- vitamin E binding
- phosphatidylinositol-3,4-bisphosphate binding