DISEASES

Disease-gene associations mined from literature

Literature associating VIPAS39 and ARC syndrome

VIPAS39 [ENSP00000452181]

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog; Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A- dependent recycling pathway and in the maintenance of the apical- basolateral polarity. May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be indepenedent of VPS33B. May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indirect transcriptional regulation of E- cadherin (By similarity); Belongs to the SPE39 family.

Synonyms:  VIPAS39,  VIPAS39p,  hVIPAS39,  C14ORF133,  G3V4K3 ...

Linkouts:  STRING  Pharos  UniProt