Vacuolar protein sorting 33 homolog B (yeast)
The VPS33B gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene cause autosomal recessive ARCS1, a syndrome characterized by arthrogryposis, renal dysfunction, and cholestasis.
Genetests:
Related Diseases:
References:
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Gissen P et al. (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
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Gissen P et al. (2006) Clinical and molecular genetic features of ARC syndrome.
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Taha D et al. (2007) A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.
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Horslen SP et al. (1994) Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
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Cullinane AR et al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
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Carim L et al. (2000) Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b.
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7. |
Huizing M et al. (2001) Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.
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8. |
Eastham KM et al. (2001) ARC syndrome: an expanding range of phenotypes.
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OMIM.ORG article
Omim 608552
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Orphanet article
Orphanet ID 120480
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NCBI article
NCBI 26276
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12. |
Wikipedia article
Wikipedia EN (VPS33B)
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Update: Aug. 14, 2020