VIPAS39
Appearance
VIPAS39 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | VIPAS39, C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39, VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 613401; MGI: 2144805; HomoloGene: 41464; GeneCards: VIPAS39; OMA:VIPAS39 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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VIPAS39, formerly known as C14orf133, is a protein that in humans is encoded by the VIPAS39 gene. This protein is 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. [5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000151445 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021038 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog".
External links
- Human VIPAS39 genome location and VIPAS39 gene details page in the UCSC Genome Browser.
Further reading