The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.
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Accession number;02A0472896
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| Title;The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. |
| Author;
UENO SHUICHI
(Ehime Univ., Sch. of Med.)
TOMEMORI YUKO
(Ehime Univ., Sch. of Med.)
SHIGENOBU KAZUE
(Ehime Univ., Sch. of Med.)
NAKAMURA MASAYUKI
(Ehime Univ., Sch. of Med.)
TANABE HIROTAKA
(Ehime Univ., Sch. of Med.)
SANO AKIRA
(Ehime Univ., Sch. of Med.)
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Journal Title;Annual Report of the Pharmacopsychiatry Research Foundation
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Journal Code:Y0939A
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ISSN:0286-7591
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VOL.;NO.34;PAGE.206-212(2002)
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| Figure&Table&Reference;FIG.3, REF.11 |
| Pub. Country;Japan |
| Language;Japanese |
| 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. Northern blot analysis showed that the transcript, whose size was about 10kb as expected from its cDNA sequence, expressed abundantly in brain, heart, skeletal muscle and kidney. (author abst.) |
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