Gene Symbol | VIPAS39 |
Entrez Gene ID | 63894 |
Full Name | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
Synonyms | C14orf133,SPE-39,SPE39,VIPAR,VPS16B,hSPE-39 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]. |
Disorder MIM: | |
Disorder Html: | Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3) |