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

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.

• Authors: L Rampoldi, C Dobson-Stone, J P Rubio, A Danek, R M Chalmers, N W Wood, C Verellen, X Ferrer, A Malandrini, G M Fabrizi, R Brown, J Vance, M Pericak-Vance, G Rudolf, S Carrè, E Alonso, M Manfredi, A H Németh, A P Monaco
• Journal: Nature genetics (Nat Genet) Vol. 28 Issue 2 Pg. 119-20 (Jun 2001) ISSN: 1061-4036 [Print] United States
• PMID: 11381253 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

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

Topics

• 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, metabolism)
• Saccharomyces cerevisiae Proteins
• Sequence Homology, Amino Acid
• Transcription, Genetic
• Vesicular Transport Proteins