alpha-tocopherol transfer protein; alpha-TTP (TTPA)

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Function

maintains concentration of serum alpha-tocopherol
binds alpha-tocopherol & enhances its transfer between separate membranes

Structure

contains 1 CRAL-TRIO domain

Compartment

Expression

present in brain, presumably CSF

Pathology

defects in TTPA are the cause of ataxia with isolated vitamin E deficiency

Comparative biology

mice deficient in alpha-tocopherol transfer protein
- display ataxia & retinal degeneration
- lipid peroxidation & degenerating neurons accompany phenotypic changes
- alpha-tocopherol supplementation almost completely prevents development of neurologic changes

More general terms

carrier protein (transporter)

References

↑ UniProt http://www.uniprot.org/uniprot/P49638.html
↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TTPA
↑ Yokota T et al Delayed-onset ataxia in mice lacking alpha-tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress. Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):15185-90. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11752462

Database

Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7274
Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7274
OMIM: https://mirror.omim.org/entry/277460
OMIM: https://mirror.omim.org/entry/600415
UniProt: http://www.uniprot.org/uniprot/P49638.html

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