vacuolar protein sorting-associated protein 13A; chorein; chorea-acanthocytosis protein (VPS13A, CHAC, KIAA0986)
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Function
- may play a role in the control of protein cycling through the trans-Golgi network to early & late endosomes, lysosomes & plasma membrane
Structure
- belongs to the VPS13 family
- contains 10 TPR repeats
Alternative splicing
- named isoforms=4
Expression
- widely expressed
- higher expression is found in brain, heart, skeletal muscle & kidney
Pathology
- defects in VPS13A are the cause of chorea-acanthocytosis
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q96RL7.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/VPS13A
- ↑ Rampoldi L et al A conserved sorting-associated protein is mutant in chorea- acanthocytosis. Nat Genet. 2001 Jun;28(2):119-20. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11381253
- ↑ Ueno S et al The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):121-2. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11381254