Entrez gene ID | | 7274 |
Official gene symbol | | TTPA |
Full name | | tocopherol (alpha) transfer protein |
Aliases | | ,ATTP,AVED,TTP1,alphaTTP, |
Gene 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] |
Location | | Chromosome: 8 Locus: 8q13.1-q13.3 |
Gene position | | 63998612 - 63972047 Map Viewer |
Gene orientation | | minus |
Gene size | | 26566 bp |
Gene sequence |
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OMIM ID | | 600415 |