VPS33B Chromosome 15

VPS33B late endosome and lysosome associated

64 variants 64 Health Risk

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What This Gene Does

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Associated Conditions (13)

Arthrogryposis

renal dysfunction

and cholestasis 1

VPS33B-related disorder

Keratoderma-ichthyosis-deafness syndrome

autosomal recessive

Cholestasis

progressive familial intrahepatic

Abnormal bleeding

Thrombocytopenia

Microcephaly

Inborn genetic diseases

Key Variants

RS864622006

association

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

RS1289650070

Conflicting classifications of pathogenicity

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

RS138372388

Conflicting classifications of pathogenicity

Health Risk

RS139655526

Conflicting classifications of pathogenicity

Health Risk

RS139709507

Conflicting classifications of pathogenicity

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

RS1416595652

Conflicting classifications of pathogenicity

Health Risk

RS142964161

Conflicting classifications of pathogenicity

Health Risk

RS145092724

Conflicting classifications of pathogenicity

Health Risk

RS145303578

Conflicting classifications of pathogenicity

Health Risk

RS145759754

Conflicting classifications of pathogenicity

Health Risk

RS149121639

Conflicting classifications of pathogenicity

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

RS201431055

Conflicting classifications of pathogenicity

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

All Variants (64)

RSID	Category	Clinical Significance	Conditions
RS2041122746	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS368124813	Health Risk	Pathogenic	VPS33B-related disorder, Arthrogryposis, renal dysfunction
RS398122408	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS769333468	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS773306000	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS774529051	Health Risk	Pathogenic	—
RS780626848	Health Risk	Pathogenic	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive, Keratoderma-ichthyosis-deafness syndrome
RS794726658	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS886043445	Health Risk	Pathogenic	—
RS1360462093	Health Risk	Pathogenic/Likely pathogenic	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive, Arthrogryposis
RS372769808	Health Risk	Pathogenic/Likely pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS398122407	Health Risk	Pathogenic/Likely pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS751858602	Health Risk	Pathogenic/Likely pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS781206362	Health Risk	Pathogenic/Likely pathogenic	VPS33B-related disorder, Arthrogryposis, renal dysfunction

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