Chromosome - 1 SNP - rs11811536 Gene Name - ARPC5

Basic Information

Genotype Frequency
  • CC
  • AC
Allele Frequency
  • C
  • A

SNP Expression Description

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General SNP Description

More research is being conducted on this SNP. Inside each cell this gene is primarily located in cytoskeleton and cytosol. The protein encoded by this gene is ARP2/3 and functions in binding to actin filaments at 70 Degrees to form new actin branches off of existing actin filaments. Actin is a globular (spherical) multi-functional protein that forms microfilaments, which are the thinnest filaments of the cytoskeleton and is involved in many cellular processes including muscle contraction, cell motility, cell division and cytokinesis, vesicle and organelle movement, cell signaling, and the establishment of cell junctions and maintenance of cell shape. This protein also activates nucleation promoting factor (NPF), which mediates the formation of ¬†branched actin networks, which is necessary for cell movement. functioning of the nervous system. In addition to that, this protein is required in mammals for phagocytosis, which is a process by which cells engulf solid particles to form an internal vesicles. It is also necessary for establishment of cell polarity and migration of connective tissue cells in a wound healing, and in oocytes it is necessary for oocyte asymmetric division and polar body emission. Asymmetric cell division plays an important role in cancer since it is necessary for maintaining cell homeostasis by balancing proliferation and self-renewal of cell with cell cycle exit of differentiated cells or cells that have a specific fate of becoming a muscle for instance. In a study on HSCC (Head and Neck Squamous Cell Carcinoma) researchers found that there was an increased expression of ARP2/3 in invasive cancer cells, that contributed to cancer cell migration and invasion in the HSCC. In addition to that, researchers found that this gene was directly regulated by a tumor suppressive micro-RNA133a, which is a small RNA molecule that affects ARP2/3’s gene expression. Moreover, researchers found that low levels of thyroid hormones can decrease the expression of ARPC5 as well as participate in CNS injury mediated by hypothyroidism by inducing inhibition of neurite outgrowth and cytoskeletal protein disorganization.

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