TTPA

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]

Description

Alpha tocopherol transfer protein

Tissue specificity

Tissue enriched (liver)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

8 (63048553 - 63086053)

Ensembl ID

ENSG00000137561  (ver. 103.38)

Orthologs

Mouse Ttpa: ENSMUSG00000073988

UniProt

P49638

neXtProt

NX_P49638

Human splice variants
Mouse splice variants

Protein structure