Aliases for TTPA Gene
External Ids for TTPA Gene
Previous HGNC Symbols for TTPA Gene
Previous GeneCards Identifiers for TTPA Gene
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]
GeneCards Summary for TTPA Gene
TTPA (Tocopherol (Alpha) Transfer Protein) is a Protein Coding gene. Diseases associated with TTPA include ataxia with isolated vitamin e deficiency and ataxia with vitamin e deficiency. Among its related pathways are Transport to the Golgi and subsequent modification and Lysosome. GO annotations related to this gene include transporter activity and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is CLVS1.
UniProtKB/Swiss-Prot for TTPA Gene
Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells (PubMed:7887897). Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity).