DISEASES

Disease-gene associations mined from literature

Literature associating WASHC5 and hereditary spastic paraplegia 42

WASHC5 [ENSP00000318016]

WASH complex subunit 5; 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 (PubMed:19922875, PubMed:20498093). 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 . ECO:0000269|PubMed:20833645, ECO:0000269|PubMed:23085491,

Synonyms:  WASHC5,  WASHC5p,  hWASHC5,  E5RFU6,  E7EQI7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM