A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Nat Genet. 2001 Jun;28(2):119-20. doi: 10.1038/88821.

Abstract

Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alternative Splicing
  • Animals
  • Caenorhabditis elegans / genetics
  • Cell Line
  • Chorea / genetics*
  • Chromosomes, Human, Pair 6
  • Erythrocytes / physiology
  • Exons
  • Fungal Proteins / genetics
  • Gene Expression Regulation
  • Haplotypes
  • Humans
  • Mutation*
  • Pedigree
  • Protein Transport
  • Proteins / genetics*
  • Proteins / metabolism
  • Saccharomyces cerevisiae Proteins*
  • Sequence Homology, Amino Acid
  • Transcription, Genetic
  • Vesicular Transport Proteins

Substances

  • Fungal Proteins
  • Proteins
  • Saccharomyces cerevisiae Proteins
  • VPS13 protein, S cerevisiae
  • VPS13A protein, human
  • Vesicular Transport Proteins