Gene Symbol | TTPA |
Entrez Gene ID | 7274 |
Full Name | alpha tocopherol transfer protein |
Synonyms | ATTP,AVED,TTP1,alphaTTP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Ataxia with isolated vitamin E deficiency, 277460 (3) |