ARPC4 Chromosome 3

Actin related protein 2/3 complex subunit 4
1 variant 1 Health Risk

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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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2125650298 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay, language impairment
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