DISEASES

Disease-gene associations mined from literature

Literature associating WAS and thrombocytopenia

WAS [ENSP00000365891]

Wiskott-Aldrich syndrome protein; Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex . Important for efficient actin polymerization (PubMed:8625410, PubMed:12235133, PubMed:16275905). Possible regulator of lymphocyte and platelet function . Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria . In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA . Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) . ECO:0000269|PubMed:12769847, ECO:0000269|PubMed:16275905, ECO:0000269|PubMed:18650809, ECO:0000269|PubMed:20574068, ECO:0000269|PubMed:29925947, ECO:0000269|PubMed:8625410,

Synonyms:  WAS,  A0A024QYX8,  C9J3B7,  P42768,  C9J3B7p ...

Linkouts:  STRING  Pharos  UniProt  OMIM