Gene: A2M

Alternate names for this Gene: A2MD|CPAMD5|FWP007|S863-7

Gene Summary: The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: alpha-2-macroglobulin

Type of Gene: protein-coding

Gene: KLRG1

Alternate names for this Gene: 2F1|CLEC15A|MAFA|MAFA-2F1|MAFA-L|MAFA-LIKE

Gene Summary: Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: killer cell lectin like receptor G1

Type of Gene: protein-coding

rs7980288 in A2M;KLRG1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs7980288 in A2M;KLRG1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.