RGD Reference Report - A conserved sorting-associated protein is mutant in chorea-acanthocytosis. - Rat Genome Database

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Authors: Rampoldi, L  Dobson-Stone, C  Rubio, JP  Danek, A  Chalmers, RM  Wood, NW  Verellen, C  Ferrer, X  Malandrini, A  Fabrizi, GM  Brown, R  Vance, J  Pericak-Vance, M  Rudolf, G  Carre, S  Alonso, E  Manfredi, M  Nemeth, AH  Monaco, AP 
Citation: Rampoldi L, etal., Nat Genet. 2001 Jun;28(2):119-20.
RGD ID: 1599747
Pubmed: PMID:11381253   (View Abstract at PubMed)
DOI: DOI:10.1038/88821   (Journal Full-text)

Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
VPS13AHumanchoreatic disease  IAGP choreoacanthocytosis and OMIM:200150 RGD 
Vps13aRatchoreatic disease  ISOVPS13A (Homo sapiens)choreoacanthocytosis and OMIM:200150 RGD 
Vps13aMousechoreatic disease  ISOVPS13A (Homo sapiens)choreoacanthocytosis and OMIM:200150 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Vps13a  (vacuolar protein sorting 13 homolog A)

Genes (Mus musculus)
Vps13a  (vacuolar protein sorting 13A)

Genes (Homo sapiens)
VPS13A  (vacuolar protein sorting 13 homolog A)


Additional Information