Nature Genetics
28, 121 - 122 (2001)
doi:10.1038/88825
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosisShu-ichi Ueno1, Yoshiko Maruki1, Masayuki Nakamura1, Yuko Tomemori1, Kazue Kamae1, Hirotaka Tanabe1, Yoriaki Yamashita2, Seiji Matsuda3, Sunao Kaneko4
& Akira Sano11
Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Ehime, Japan. 2
Department of Neurology, Matsuyama Red Cross Hospital, Matsuyama, Ehime, Japan. 3
Department of Anatomy, Ehime University School of Medicine, Shigenobu, Ehime, Japan. 4
Department of Neuropsychiatry, Hirosaki University School of Medicine, Hirosaki, Aomori, Japan.
Correspondence should be addressed to Akira Sano sano@m.ehime-u.ac.jpChorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis1. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found2. 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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