Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Nat Genet
; 36(4): 400-4, 2004 Apr.
Article
en En
| MEDLINE
| ID: mdl-15052268
ABSTRACT
ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity. Platelet dysfunction is common. Affected infants do not thrive and usually die in the first year of life. To elucidate the molecular basis of ARC, we mapped the disease to a 7-cM interval on 15q26.1 and then identified germline mutations in the gene VPS33B in 14 kindreds with ARC. VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Artrogriposis
/
Proteínas
/
Colestasis
/
Proteínas de Transporte Vesicular
/
Enfermedades Renales
/
Fusión de Membrana
/
Proteínas de la Membrana
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2004
Tipo del documento:
Article
País de afiliación:
Reino Unido