ARPC4
Function
Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (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 (PubMed:29925947). 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) (PubMed:29925947).
Involvement in disease
Developmental delay, language impairment, and ocular abnormalities
DEVLO
An autosomal dominant disorder characterized by mild motor delay, mildly impaired intellectual development, and significant speech impairment. Most affected individuals have microcephaly and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ARPC4 family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cell projection
- Nucleus
Alternative names
ARC20, ARPC4, Actin-related protein 2/3 complex subunit 4, Arp2/3 complex 20 kDa subunit, p20-ARC