A conserved sorting-associated protein is mutant in chorea-acanthocytosis
Details
Publication Year 2001-06,Volume 28,Issue #2,Page 119-120
Journal Title
NATURE GENETICS
Publication Type
Journal Article
Abstract
Chorea-acanthocytosis (CHAC. MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology(1,2) (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease(3-8). We identified a gene in the CHAC critical region(9) and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.
Publisher
NATURE AMERICA INC
Keywords
NEUROACANTHOCYTOSIS; LOCALIZATION; KEX2P; GENES
Publisher's Version
https://doi.org/10.1038/88821
Terms of Use/Rights Notice
Refer to copyright notice on published article.


Creation Date: 2001-06-01 12:00:00
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