title: The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.
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.
authors.affiliation: Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Ehime, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Ueno
authors.forename: Y
authors.initials: Y
authors.lastname: Maruki
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
authors.forename: Y
authors.initials: Y
authors.lastname: Tomemori
authors.forename: K
authors.initials: K
authors.lastname: Kamae
authors.forename: H
authors.initials: H
authors.lastname: Tanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Yamashita
authors.forename: S
authors.initials: S
authors.lastname: Matsuda
authors.forename: S
authors.initials: S
authors.lastname: Kaneko
authors.forename: A
authors.initials: A
authors.lastname: Sano
mesh_terms: D002819:Chorea / Q000235:genetics*; D022202:Chromosomes, Artificial, Bacterial; D002899:Chromosomes, Human, Pair 9; D020224:Expressed Sequence Tags; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D033921:Vesicular Transport Proteins
chemical_list: D011506:Proteins; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins