DISEASES

Disease-gene associations mined from literature

Literature associating WASHC4 and inclusion body myopathy with Paget disease of bone and frontotemporal dementia

WASHC4 [ENSP00000484713]

WASH complex subunit 4; 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 the regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). ECO:0000303|PubMed:21498477, ECO:0000305|PubMed:19922875,

Synonyms:  WASHC4,  WASHC4p,  hWASHC4,  A0A087X256,  F8VNZ5 ...

Linkouts:  STRING  Pharos  UniProt