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

Department of Neuropsychiatry, Hirosaki University, Khirosaki, Aomori, Japan
Nature Genetics (Impact Factor: 29.65). 07/2001; 28(2):121-2. DOI: 10.1038/88825
Source: PubMed

ABSTRACT 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.

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