ARPC5 Chromosome 1
Actin related protein 2/3 complex subunit 5
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What This Gene Does
This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
Actin related protein 2/3 complex subunits
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000162704
Associated Conditions (1)
Immunodeficiency 113 with autoimmunity and autoinflammation
Key Variants
RS1287691422
Pathogenic
Immunodeficiency 113 with autoimmunity and autoinflammation, Immunodeficiency 113 with autoimmunity and autoinflammation
Health Risk
RS2528118860
Pathogenic
Immunodeficiency 113 with autoimmunity and autoinflammation, Immunodeficiency 113 with autoimmunity and autoinflammation
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1287691422 | Health Risk | Pathogenic | Immunodeficiency 113 with autoimmunity and autoinflammation, Immunodeficiency 113 with autoimmunity and autoinflammation |
| RS2528118860 | Health Risk | Pathogenic | Immunodeficiency 113 with autoimmunity and autoinflammation, Immunodeficiency 113 with autoimmunity and autoinflammation |