The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

Nat Genet. 2001 Jun;28(2):121-2. doi: 10.1038/88825.


Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found. We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chorea / genetics*
  • Chromosomes, Artificial, Bacterial
  • Chromosomes, Human, Pair 9
  • Expressed Sequence Tags
  • Female
  • Genetic Linkage*
  • Haplotypes / genetics
  • Humans
  • Japan
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Genetic
  • Proteins / genetics*
  • Vesicular Transport Proteins


  • Proteins
  • VPS13A protein, human
  • Vesicular Transport Proteins

Associated data

  • GENBANK/AB023203
  • GENBANK/AB054005
  • RefSeq/NT_008343