The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
- 1 June 2001
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 28 (2) , 121-122
- https://doi.org/10.1038/88825
Abstract
Chorea-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.Keywords
This publication has 8 references indexed in Scilit:
- Genomic Organization of the Human Gα14 and Gαq Genes and Mutation Analysis in Chorea–Acanthocytosis (CHAC)Genomics, 1999
- Prediction of the Coding Sequences of Unidentified Human Genes. XIII. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitroDNA Research, 1999
- tip genes act in parallel pathways of earlyDictyostelium developmentDevelopmental Genetics, 1999
- Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21American Journal of Human Genetics, 1997
- Allele-Specific Suppression of a Defective trans-Golgi Network (TGN) Localization Signal in Kex2p Identifies Three Genes Involved in Localization of TGN Transmembrane ProteinsMolecular and Cellular Biology, 1996
- Strategies for multilocus linkage analysis in humans.Proceedings of the National Academy of Sciences, 1984
- Cardiomyopathy Associated with the Syndrome of Amyotrophic Chorea and AcanthocytosisAnnals of Internal Medicine, 1982