DISEASES

Disease-gene associations mined from literature

Literature associating ARPC1B and combined immunodeficiency

ARPC1B [ENSP00000389631]

Actin-related protein 2/3 complex subunit 1B; Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) . The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:11741539, PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA . The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double- strand breaks (DSBs) .

Synonyms:  ARPC1B,  ARPC1Bp,  hARPC1B,  A4D275,  C9J4Z7 ...

Linkouts:  STRING  Pharos  UniProt