Preferred Label : TTPA wt Allele;
NCIt synonyms : ATTP; Tocopherol Transfer Protein, Alpha Gene; AlphaTTP; AVED; Ataxia (Friedreich-Like) with Vitamin E Deficiency Gene; Tocopherol (Alpha) Transfer Protein (Ataxia (Friedreich-Like) with Vitamin E Deficiency)
Gene; TTP1; Tocopherol (Alpha) Transfer Protein Gene; Alpha Tocopherol Transfer Protein wt Allele;
NCIt definition : Human TTPA wild-type allele is located in the vicinity of 8q12.3 and is approximately
38 kb in length. This allele, which encodes alpha-tocopherol transfer protein, is
involved in both phosphatidylinositol phosphate (PIP) binding and alpha-tocopherol
transport. Mutations in the gene are associated with ataxia with isolated vitamin
E deficiency.;
GenBank Accession Number : BC058000;
Origin ID : C213127;
OMIM relation
- gene_found_in_organism
- gene_plays_role_in_process
