DISEASES

Disease-gene associations mined from literature

Literature associating KIAA0196 and hereditary spastic paraplegia 53

KIAA0196 [ENSP00000318016]

WASH complex subunit strumpellin; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting. May be involved in axonal outgrowth. Involved in cellular localization of ADRB2. Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7.

Synonyms:  KIAA0196,  E5RFU6,  E7EQI7,  Q12768,  Q53EL1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM