ARPC4

Chr 3AD

actin related protein 2/3 complex subunit 4

Also known as: ARC20, DEVLO, P20-ARC

NCBI Gene: 10093 ENSG00000241553 UniProt: P59998 OMIM: 604226

This protein is an actin-binding component of the Arp2/3 complex that mediates actin polymerization for cell motility and also promotes nuclear actin polymerization to regulate gene transcription and DNA repair. Mutations cause autosomal dominant developmental delay with language impairment and ocular abnormalities. The gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.27), indicating intolerance to protein truncation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental delay, language impairment, and ocular abnormalitiesMIM #620141

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted