A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
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.
Rampoldi
L
L
The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, United Kingdom.
Dobson-Stone
C
C
Rubio
J P
JP
Danek
A
A
Chalmers
R M
RM
Wood
N W
NW
Verellen
C
C
Ferrer
X
X
Malandrini
A
A
Fabrizi
G M
GM
Brown
R
R
Vance
J
J
Pericak-Vance
M
M
Rudolf
G
G
Carrè
S
S
Alonso
E
E
Manfredi
M
M
Németh
A H
AH
Monaco
A P
AP
D017398:Alternative Splicing; D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics; D002460:Cell Line; D002819:Chorea / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6; D004912:Erythrocytes / Q000502:physiology; D005091:Exons; D005656:Fungal Proteins / Q000235:genetics; D005786:Gene Expression Regulation; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D010375:Pedigree; D021381:Protein Transport; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D029701:Saccharomyces cerevisiae Proteins; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic; D033921:Vesicular Transport Proteins
D005656:Fungal Proteins; D011506:Proteins; D029701:Saccharomyces cerevisiae Proteins; C110276:VPS13 protein, S cerevisiae; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins