Gene: MMP20
Alternate names for this Gene: AI2A2|MMP-20
Gene Summary: Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3.
Gene is located in Chromosome: 11
Location in Chromosome : 11q22.2
Description of this Gene: matrix metallopeptidase 20
Type of Gene: protein-coding
rs61893841 in
MMP20 gene and
Graves Disease
PMID 30067105 2018 Thyrotropin receptor antibodies and a genetic hint in antithyroid drug-induced adverse drug reactions.
rs10895322 in
MMP20 gene and
Neuroblastoma
PMID 28924153 2017 Here we identify common variants at 11q22.2 within MMP20 that associate with neuroblastoma cases harboring 11q deletion (rs10895322), using GWAS in 113 European-American cases and 5109 ancestry-matched controls.