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c14orf133

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Official Full Name
chromosome 14 open reading frame 133
Background
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.
Synonyms
C14ORF133; chromosome 14 open reading frame 133; spermatogenesis-defective protein 39 homolog; SPE 39; SPE39; VIPAR; VPS16B; VPS33B interacting protein; apical basolateral polarity regulator; protein spe-39 homolog; VPS33B-interacting protein in polarity; VPS33B-interacting protein in polarity and apical restriction; VPS33B interacting protein, apical-basolateral polarity regulator; VPS33B-interacting protein involved in polarity and apical protein restriction; SPE-39; hSPE-39; FLJ12707

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