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

ArticleinNature Genetics 28(2):121-2 · July 2001with14 Reads
Impact Factor: 29.35 · DOI: 10.1038/88825 · Source: PubMed


    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.