vacuolar protein sorting-associated protein 13A; chorein; chorea-acanthocytosis protein (VPS13A, CHAC, KIAA0986)

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Function

Structure

Alternative splicing

Expression

  • widely expressed
  • higher expression is found in brain, heart, skeletal muscle & kidney

Pathology

More general terms

References

  1. UniProt http://www.uniprot.org/uniprot/Q96RL7.html
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/VPS13A
  3. 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
  4. 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

Database