ARPC4 Chromosome 3
Actin related protein 2/3 complex subunit 4
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What This Gene Does
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]
Gene Info
Gene Group
Actin related protein 2/3 complex subunits
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000241553
Associated Conditions (4)
Inborn genetic diseases
Developmental delay
language impairment
and ocular abnormalities
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2125650298 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental delay, language impairment |