The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.
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.
Ueno
S
S
Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Ehime, Japan.
Maruki
Y
Y
Nakamura
M
M
Tomemori
Y
Y
Kamae
K
K
Tanabe
H
H
Yamashita
Y
Y
Matsuda
S
S
Kaneko
S
S
Sano
A
A
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
D011506:Proteins; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins