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Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004771 Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_004771.3, 45359864
Length 1956 bp
Structure linear
Update Date 04-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.
Product matrix metalloproteinase-20 preproprotein
Comment

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. [provided by RefSeq, Aug 2011].

RefSeq NP_004762.2
CDS 14..1465
Misc Feature(1)128..298
Misc Feature(2)305..328
Misc Feature(3)359..826
Misc Feature(4)359..826
Misc Feature(5)order(515..517,551..553,572..592,617..619,689..694,
Misc Feature(6)order(689..694,701..703,719..721)
Misc Feature(7)890..1462
Misc Feature(8)890..1042
Misc Feature(9)order(920..922,926..928,1055..1057,1061..1063,1196..1198,
Misc Feature(10)1043..1180
Misc Feature(11)1184..1330
Misc Feature(12)1331..1462
Exon (1)140..387
Gene:MMP20
Gene Synonym:AI2A2; MMP-20
Exon (2)388..536
Gene:MMP20
Gene Synonym:AI2A2; MMP-20
Exon (3)537..662
Gene:MMP20
Gene Synonym:AI2A2; MMP-20
Exon (4)663..824
Gene:MMP20
Gene Synonym:AI2A2; MMP-20
Exon (5)825..966
Gene:MMP20
Gene Synonym:AI2A2; MMP-20
Exon (6)967..1103
Gene:MMP20
Gene Synonym:AI2A2; MMP-20
Exon (7)1104..1260
Gene:MMP20
Gene Synonym:AI2A2; MMP-20
Exon (8)1261..1364
Gene:MMP20
Gene Synonym:AI2A2; MMP-20
Exon (9)1365..1956
Gene:MMP20
Gene Synonym:AI2A2; MMP-20
Translation MKVLPASGLAVFLIMALKFSTAAPSLVAASPRTWRNNYRLAQAYLDKYYTNKEGHQIGEM VARGSNSMIRKIKELQAFFGLQVTGKLDQTTMNVIKKPRCGVPDVANYRLFPGEPKWKKN TLTYRISKYTPSMSSVEVDKAVEMALQAWSSAVPLSFVRINSGEADIMISFENGDHGDSY PFDGPRGTLAHAFAPGEGLGGDTHFDNAEKWTMGTNGFNLFTVAAHEFGHALGLAHSTDP SALMYPTYKYKNPYGFHLPKDDVKGIQALYGPRKVFLGKPTLPHAPHHKPSIPDLCDSSS SFDAVTMLGKELLLFKDRIFWRRQVHLRTGIRPSTITSSFPQLMSNVDAAYEVAERGTAY FFKGPHYWITRGFQMQGPPRTIYDFGFPRHVQQIDAAVYLREPQKTLFFVGDEYYSYDER KRKMEKDYPKNTEEEFSGVNGQIDAAVELNGYIYFFSGPKTYKYDTEKEDVVSVVKSSSW IGC
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Position Chain Variation Link
complement(47)-g, adbSNP:201172301
complement(55)-g, cdbSNP:373119810
66+a, cdbSNP:2245803
complement(79)-t, cdbSNP:144554695
complement(81)-g, adbSNP:372940319
complement(88)-g, adbSNP:149295645
complement(105)-g, adbSNP:61730847
complement(112)-g, adbSNP:199516216
complement(116)-t, g, cdbSNP:61751462
complement(128)-g, adbSNP:143867898
complement(148)-dbSNP:
complement(148)-t, adbSNP:370844687
complement(176)-g, adbSNP:376574181
complement(177)-t, cdbSNP:202146356
complement(183)-g, adbSNP:371858298
complement(215)-t, cdbSNP:138308694
complement(216)-t, adbSNP:368095511
complement(223)-t, cdbSNP:140041158
complement(244)-t, cdbSNP:185057360
complement(252)-t, cdbSNP:143113210
complement(265)-g, adbSNP:373917419
complement(266)-t, cdbSNP:199926748
complement(267)-t, cdbSNP:200482846
complement(287)-t, cdbSNP:61730848
complement(302)-t, cdbSNP:367552668
complement(309)-c, adbSNP:373684205
complement(310)-g, adbSNP:371625120
complement(339)-t, cdbSNP:146053692
complement(345)-g, adbSNP:376926048
complement(356)-t, gdbSNP:374230120
complement(385)-g, adbSNP:143362660
complement(396)-dbSNP:
complement(396)-t, gdbSNP:61753771
complement(402)-g, adbSNP:61730849
complement(422)-t, cdbSNP:145904752
complement(428)-g, adbSNP:17099014
complement(443)-t, cdbSNP:146424395
complement(456)-g, adbSNP:190817531
complement(466)-g, adbSNP:143965716
complement(467)-t, cdbSNP:370166894
complement(477)-g, adbSNP:139116285
complement(488)-t, cdbSNP:199623165
518+a, cdbSNP:17099008
complement(533)-c, adbSNP:142180012
complement(559)-dbSNP:
complement(559)-g, adbSNP:148659857
complement(581)-t, cdbSNP:368904359
complement(610)-c, adbSNP:147183005
complement(617)-g, cdbSNP:375986440
complement(638)-g, cdbSNP:199788797
complement(646)-t, cdbSNP:201805835
complement(656)-t, cdbSNP:371007401
complement(657)-g, adbSNP:377682409
complement(658)-t, cdbSNP:143750033
complement(680)-dbSNP:
complement(680)-t, cdbSNP:145109609
complement(698)-t, cdbSNP:199531622
complement(730)-g, cdbSNP:377191656
complement(736)-t, cdbSNP:139717539
complement(737)-t, cdbSNP:147459787
complement(742)-t, cdbSNP:149347703
complement(745)-t, cdbSNP:61730850
complement(763)-g, adbSNP:141334366
complement(770)-g, adbSNP:138853084
complement(771)-t, gdbSNP:368896831
complement(817)-t, cdbSNP:376451354
complement(823)-t, cdbSNP:386517613
complement(823)-g, adbSNP:11225343
complement(831)-dbSNP:
complement(831)-t, cdbSNP:141875245
837+c, tdbSNP:1784423
complement(838)-t, cdbSNP:201174058
855+a, cdbSNP:1784424
complement(866)-t, cdbSNP:182862570
complement(883)-t, adbSNP:17098831
complement(895)-g, adbSNP:141603134
complement(896)-t, g, cdbSNP:146876571
complement(922)-g, adbSNP:145296288
complement(923)-t, cdbSNP:148818720
complement(940)-g, cdbSNP:145529899
complement(965)-g, adbSNP:149696445
complement(980)-dbSNP:
complement(980)-t, g, adbSNP:200265019
complement(981)-t, cdbSNP:147615125
complement(995)-g, adbSNP:139809661
complement(996)-t, cdbSNP:147430004
complement(1005)-g, adbSNP:147526712
complement(1007)-g, adbSNP:148721639
complement(1050)-t, cdbSNP:376142294
complement(1110)-dbSNP:
complement(1110)-t, gdbSNP:374646429
complement(1138)-t, cdbSNP:144219408
complement(1149)-g, adbSNP:149589493
complement(1151)-g, adbSNP:184655088
complement(1201)-g, adbSNP:375759479
complement(1202)-c, adbSNP:370708788
complement(1232)-g, adbSNP:150191942
complement(1264)-dbSNP:
complement(1264)-g, adbSNP:138278626
complement(1265)-t, cdbSNP:374317024
complement(1267)-g, adbSNP:146377521
complement(1268)-t, cdbSNP:200903478
complement(1300)-t, cdbSNP:200893460
complement(1326)-g, cdbSNP:61753770
complement(1342)-g, adbSNP:139032178
complement(1343)-t, cdbSNP:201488609
1365+dbSNP:
1365+a, cdbSNP:79248469
complement(1396)-t, gdbSNP:145152907
complement(1402)-g, cdbSNP:376392684
complement(1433)-t, cdbSNP:143537032
complement(1435)-t, cdbSNP:373697258
complement(1487)-t, cdbSNP:189995623
complement(1496)-t, cdbSNP:200195120
complement(1569)-g, adbSNP:111760689
complement(1620)-, adbSNP:35128445
complement(1683)-g, adbSNP:185868865
complement(1692)-t, gdbSNP:12278482
complement(1733)-g, adbSNP:376611871
1764+c, gdbSNP:17098541
complement(1841)-g, adbSNP:140087742
complement(1854)-t, adbSNP:146080568
complement(1883)-t, cdbSNP:183248988
complement(1892)-t, adbSNP:2292729
complement(1897)-c, adbSNP:374164504
complement(1951)-t, cdbSNP:370747533
Gene SymbolMMP20
Gene SynonymAI2A2; MMP-20
Chromosome11
Locus Map11q22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004771 Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA. On-demand $699.00 18
Title Identification of the effects of aging-related gene-matrix metalloproteinase on allograft outcomes in kidney transplantation .
Author Han SS, Lee H, Oh YJ, Lee JP, Kim S, Ha J, Kim SJ, Park MH, Kim YS and Kim DK.
Journal Transplant. Proc. 45 (6), 2158-2164 (2013)
Title Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta .
Author Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S, Schneider C, Vidal L, Hemmerle J, Sire JY and Bloch-Zupan A.
Journal J. Dent. Res. 92 (7), 598-603 (2013)
Title Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array .
Author Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA, Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J, Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ, Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D, Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT, Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D, Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA, Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D, Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C, Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T, Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG, Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S, Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK, Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA, Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C, Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA, Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and Easton DF.
Journal Nat. Genet. 45 (4), 385-391 (2013)
Title Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing .
Author Wang SK, Hu Y, Simmer JP, Seymen F, Estrella NM, Pal S, Reid BM, Yildirim M, Bayram M, Bartlett JD and Hu JC.
Journal J. Dent. Res. 92 (3), 266-271 (2013)
Title Genetic variation in MMP20 contributes to higher caries experience .
Author Tannure PN, Kuchler EC, Lips A, Costa Mde C, Luiz RR, Granjeiro JM and Vieira AR.
Journal J Dent 40 (5), 381-386 (2012)
Title Matrix metalloproteinases 19 and 20 cleave aggrecan and cartilage oligomeric matrix protein (COMP) .
Author Stracke JO, Fosang AJ, Last K, Mercuri FA, Pendas AM, Llano E, Perris R, Di Cesare PE, Murphy G and Knauper V.
Journal FEBS Lett. 478 (1-2), 52-56 (2000)
Title Matrix metalloproteinases .
Author Nagase H and Woessner JF Jr.
Journal J. Biol. Chem. 274 (31), 21491-21494 (1999)
Title Proteinases in developing dental enamel .
Author Bartlett JD and Simmer JP.
Journal Crit. Rev. Oral Biol. Med. 10 (4), 425-441 (1999)
Title Identification and structural and functional characterization of human enamelysin (MMP-20) .
Author Llano E, Pendas AM, Knauper V, Sorsa T, Salo T, Salido E, Murphy G, Simmer JP, Bartlett JD and Lopez-Otin C.
Journal Biochemistry 36 (49), 15101-15108 (1997)
Title Fine physical mapping of the human matrix metalloproteinase genes clustered on chromosome 11q22.3 .
Author Pendas AM, Santamaria I, Alvarez MV, Pritchard M and Lopez-Otin C.
Journal Genomics 37 (2), 266-268 (1996)

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