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Gene : TTPA Homo sapiens

Name  ? alpha tocopherol transfer protein Cytological Location  8q12.3
Brief Description  alpha tocopherol transfer protein
Description  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]
  • synonyms:
  • HGNC:12404,
  • tocopherol (alpha) transfer protein,
  • TTP1,
  • TTPA,
  • AVED,
  • OTTHUMG00000164367,
  • AVED,
  • BC058000,
  • NM_000370,
  • alphaTTP,
  • uc003xux.3,
  • ATTP,
  • ataxia (Friedreich-like) with vitamin E deficiency
  • identifiers:
  • 7274,
  • ENSG00000137561,
  • TTPA

Genome feature

Region: gene ? Length: 27036  
Location: 8:63059488-63086523 reverse strand Cyto location: 8q12.3

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Gene -> HPO annotation (Human Phenotype Ontology)

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

18 Data Sets

23 Homologues

0 Located Features

97 Rna Seq Results