Property Summary

NCBI Gene PubMed Count 31
PubMed Score 70.98
PubTator Score 46.60

Knowledge Summary

Patent

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Gene RIF (24)

PMID Text
26558991 The expression of MMP20 was lower in calcifying cystic odontogenic tumor when compared to all tumors and cysts.
26337002 The growth of choroidal neovascularization in AMD would be affected by 2 genes: MMP20, a newly confirmed gene expressed in the retina, and ARMS2/HTRA1, a well-known susceptibility gene for AMD.
26124219 Novel homozygous mutation MMP20 (c.1054G>A, p.Glu352Lys) genes were identified in amelogenesis imperfect consanguinity. Mutant MMP20 was expressed at a normal level but secreted only minimally with proteolytic function.
25805840 expression of MMP-20 and co-expression and potential interaction with DSPP in human major salivary gland tissues
23953525 Polymorphisms of MMP7 and MMP20 genes may be surrogate markers to predict long-term outcomes after kidney transplantation.
23625376 mineralized content slightly decreased; magnesium substituting for calcium in crystal. anomalies affected enamel with minimal interrod enamel; apatite crystals perpendicular to enamel prisms, suggesting possible new role for MMP20 in enamel formation.
23355523 amelogenesis imperfecta-causing mutations were identified in three of the probands: 2)a novel missense transition mutation in both MMP20 alleles (g.15390A>G; c.611A>G; p.His204Arg) that substituted arginine for histidine.
23241590 The results identify MMP-20 as a broad activator of pro-KLKs, suggesting the potential for intersection of the KLK and MMP axes under pathological dysregulation of MMP-20 expression.
22330321 Variation in MMP20 may be associated with caries experience mainly in Caucasian subjects with poor oral health habits.
21504268 hypocalcified amelogenesis imperfecta, Witkop type III, was unrelated to previously described mutations in the ENAM or MMP-20 genes
21466263 MMP-20 is overexpresssed in LSCC compared with the adjacent normal laryngeal epithelium.
21144496 Associations between tooth agenesis and MMP1 (p=0.007), and MMP20 (p=0.03) were found in Brazilian families. MMP20 continued to be associated with tooth agenesis (p=0.01). Mmp20 was not expressed during the initial stages of tooth development.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20484597 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19966041 In a family with a hypomaturation-type enamel defect, mutational and haplotype analyses revealed an amelogenesis imperfecta-causing point mutation in exon 6 of MMP20 that results in a single amino acid substitution in the hemopexin domain.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19834535 were able to find SNPs in the matrix metallopeptidase gene MMP20(GeneID 9313) that are significantly associated with kidney aging.
19834535 Observational study of gene-disease association. (HuGE Navigator)
18714142 A total of 463 individuals from 54 families were evaluated and mutations in the AMEL, ENAM and KLK4 genes were identified.
18434575 Binding of the P41T mutant amelogenin for matrix metalloproteinase 20 was significantly lower than that of wild-type amelogenin.
17611094 c-Jun is a key regulatory element for MMP-20 expression
15744043 A mutation in the MMP-20 gene has been identified and associated with amelogenesis imperfecta.
15296943 Enamelysin and collagen XVIII were co-localized in the developing enamel matrix and stratum intermedium and in the enamel-like tumor matrix of odontogenic tumors.

AA Sequence

MKVLPASGLAVFLIMALKFSTAAPSLVAASPRTWRNNYRLAQAYLDKYYTNKEGHQIGEMVARGSNSMIR      1 - 70
KIKELQAFFGLQVTGKLDQTTMNVIKKPRCGVPDVANYRLFPGEPKWKKNTLTYRISKYTPSMSSVEVDK     71 - 140
AVEMALQAWSSAVPLSFVRINSGEADIMISFENGDHGDSYPFDGPRGTLAHAFAPGEGLGGDTHFDNAEK    141 - 210
WTMGTNGFNLFTVAAHEFGHALGLAHSTDPSALMYPTYKYKNPYGFHLPKDDVKGIQALYGPRKVFLGKP    211 - 280
TLPHAPHHKPSIPDLCDSSSSFDAVTMLGKELLLFKDRIFWRRQVHLRTGIRPSTITSSFPQLMSNVDAA    281 - 350
YEVAERGTAYFFKGPHYWITRGFQMQGPPRTIYDFGFPRHVQQIDAAVYLREPQKTLFFVGDEYYSYDER    351 - 420
KRKMEKDYPKNTEEEFSGVNGQIDAAVELNGYIYFFSGPKTYKYDTEKEDVVSVVKSSSWIGC           421 - 483
//

Text Mined References (33)

PMID Year Title
26558991 2015 Immunohistochemical expression of WNT5A and MMPs in odontogenic epithelial tumors and cysts.
26337002 2015 MMP20 and ARMS2/HTRA1 Are Associated with Neovascular Lesion Size in Age-Related Macular Degeneration.
26124219 2015 Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta.
25805840 2015 Expression of Matrix Metalloproteinase (MMP)-20 and Potential Interaction with Dentin Sialophosphoprotein (DSPP) in Human Major Salivary Glands.
23953525 Identification of the effects of aging-related gene-matrix metalloproteinase on allograft outcomes in kidney transplantation.
23625376 2013 Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
23355523 2013 Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing.
23241590 2013 Activation profiles of human kallikrein-related peptidases by matrix metalloproteinases.
22330321 2012 Genetic variation in MMP20 contributes to higher caries experience.
21504268 2012 A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families.
21466263 2011 Prognostic significance of matrix metalloproteinase-20 overexpression in laryngeal squamous cell carcinoma.
21144496 2011 MMP1 and MMP20 contribute to tooth agenesis in humans.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20484597 2010 Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19966041 2010 MMP20 hemopexin domain mutation in amelogenesis imperfecta.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19834535 2009 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
18714142 2009 Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.
18434575 2008 Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta.
17869250 2007 Catalytic domain of MMP20 (Enamelysin) - the NMR structure of a new matrix metalloproteinase.
17611094 2007 JNK/c-Jun signaling pathway mediates the fluoride-induced down-regulation of MMP-20 in vitro.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15744043 2005 MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta.
15296943 2004 Expression of collagen XVIII and MMP-20 in developing teeth and odontogenic tumors.
11706946 2001 Expression and regulation of MMP-20 in human tongue carcinoma cells.
10949161 2000 Structural differences of matrix metalloproteinases. Homology modeling and energy minimization of enzyme-substrate complexes.
10922468 2000 Matrix metalloproteinases 19 and 20 cleave aggrecan and cartilage oligomeric matrix protein (COMP).
10634581 1999 Proteinases in developing dental enamel.
10419448 1999 Matrix metalloproteinases.
9398237 1997 Identification and structural and functional characterization of human enamelysin (MMP-20).
8921407 1996 Fine physical mapping of the human matrix metalloproteinase genes clustered on chromosome 11q22.3.