MMP20

matrix metallopeptidase 20

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]

Known Variants143 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs531522695	11:102,447,573	A/G	—	uncertain significance
rs1269175482	11:102,447,576	T/C	—	uncertain significance
rs886047543	11:102,447,592	T/C	—	uncertain significance
rs2292729	11:102,447,630	T/A	—	uncertain significance
rs774781201	11:102,447,645	C/T	—	uncertain significance
rs17098541	11:102,447,758	C/T	—	uncertain significance
rs376611871	11:102,447,789	A/G	—	uncertain significance
rs12278482	11:102,447,830	T/G	—	benign
rs886047544	11:102,447,947	T/A	—	uncertain significance
rs766621123	11:102,448,079	G/C	—	uncertain significance
rs751829476	11:102,448,085	A/G	—	uncertain significance
rs373697258	11:102,448,087	C/T	—	uncertain significance
rs1269504792	11:102,448,091	C/T	—	uncertain significance
rs2496519908	11:102,448,118	T/C	—	uncertain significance
rs768247344	11:102,448,143	A/G	—	uncertain significance
rs761478767	11:102,448,147	G/C	—	likely pathogenic
rs2292730	11:102,448,256	A/G	regulatory region variant	benign
rs17174285	11:102,448,484	C/T	—	benign
rs7934921	11:102,449,650	T/A	—	benign
rs201488609	11:102,449,791	C/T	—	uncertain significance
rs548699970	11:102,449,799	C/T	—	uncertain significance
rs61753770	11:102,449,808	C/G	—	conflicting classifications of pathogenicity
rs1303032939	11:102,449,825	A/G	—	uncertain significance
rs200893460	11:102,449,834	T/C	—	uncertain significance
rs754430140	11:102,449,842	C/T	—	uncertain significance
rs138278626	11:102,449,870	G/A	—	likely benign
rs10502004	11:102,449,931	T/C	—	benign
rs1940054	11:102,449,951	A/C	—	benign
rs17174291	11:102,450,132	C/T	—	benign
rs12275449	11:102,450,163	C/T	—	benign
rs17174298	11:102,450,488	G/C	intron variant	—
rs78512915	11:102,453,142	G/A	intron variant	—
rs1784441	11:102,463,950	A/G	—	benign
rs886047545	11:102,464,162	A/G	—	uncertain significance
rs150191942	11:102,464,198	G/A	—	uncertain significance
rs370708788	11:102,464,228	C/A	—	uncertain significance
rs537663295	11:102,464,246	C/T	—	uncertain significance
rs767478911	11:102,464,278	C/T	—	uncertain significance
rs149589493	11:102,464,281	G/A	—	conflicting classifications of pathogenicity
rs781178683	11:102,464,291	G/A	—	likely pathogenic
rs916966344	11:102,464,295	T/G	—	pathogenic
rs774909387	11:102,464,309	T/C	—	uncertain significance
rs1784440	11:102,464,451	C/T	—	benign
rs1711438	11:102,465,151	C/G	—	benign
rs1711437	11:102,465,226	C/T	intron variant	benign
rs7116339	11:102,465,281	G/A	—	benign
rs752244634	11:102,465,389	G/A	—	uncertain significance
rs762544632	11:102,465,396	G/A	—	no classification for the single variant
rs1385552997	11:102,465,415	G/T	—	uncertain significance
rs148721639	11:102,465,448	G/A	—	uncertain significance
rs147526712	11:102,465,450	A/G	—	uncertain significance
rs147430004	11:102,465,459	C/T	—	uncertain significance
rs1165472256	11:102,465,461	C/A	—	uncertain significance
rs147615125	11:102,465,474	C/T	—	uncertain significance
rs200265019	11:102,465,475	G/A	—	uncertain significance
rs140213840	11:102,465,490	T/A	splice region variant	pathogenic
rs10895322	11:102,470,256	A/G	regulatory region variant	not provided
rs17098800	11:102,476,959	C/G	—	benign
rs1711427	11:102,477,006	A/G	—	benign
rs11225342	11:102,477,046	T/C	—	benign
rs1784425	11:102,477,132	C/A	—	benign
rs116445633	11:102,477,226	A/G	—	benign
rs149696445	11:102,477,267	G/A	—	uncertain significance
rs763105283	11:102,477,308	G/C	—	no classification for the single variant
rs148818720	11:102,477,309	C/T	—	conflicting classifications of pathogenicity
rs146876571	11:102,477,336	G/C	—	uncertain significance
rs17098831	11:102,477,349	T/A	—	conflicting classifications of pathogenicity
rs768882792	11:102,477,364	G/T	—	uncertain significance
rs1784424	11:102,477,377	G/T	—	benign
rs201174058	11:102,477,394	T/C	—	likely benign
rs1784423	11:102,477,395	A/G	—	benign
rs141875245	11:102,477,401	C/T	—	uncertain significance
rs538994781	11:102,477,402	G/A	—	uncertain significance
rs3781787	11:102,477,515	C/T	—	benign
rs3781788	11:102,477,556	C/T	—	benign
rs11825664	11:102,477,641	G/A	—	benign
rs2509019	11:102,479,418	T/C	—	benign
rs7939224	11:102,479,538	A/G	—	benign
rs1711420	11:102,479,549	T/C	—	benign
rs1711419	11:102,479,555	T/C	—	benign
rs11225343	11:102,479,669	G/A	—	benign
rs778890652	11:102,479,671	A/G	—	uncertain significance
rs776878076	11:102,479,711	G/A	—	likely benign
rs138853084	11:102,479,722	G/A	—	uncertain significance
rs139717539	11:102,479,756	T/C	—	uncertain significance
rs779994078	11:102,479,768	G/A	—	uncertain significance
rs1565397250	11:102,479,769	G/T	—	pathogenic
rs781377746	11:102,479,789	A/C	—	uncertain significance
rs587777515	11:102,479,801	A/T	missense variant	pathogenic
rs757465271	11:102,479,809	C/T	—	uncertain significance
rs145109609	11:102,479,812	C/T	—	uncertain significance
rs763757159	11:102,479,813	G/A	—	uncertain significance
rs2496577533	11:102,479,822	A/T	—	uncertain significance
rs10502005	11:102,480,421	A/G	—	benign
rs201250295	11:102,480,628	A/G	—	likely benign
rs377682409	11:102,480,641	G/A	—	uncertain significance
rs1859574030	11:102,480,644	C/G	—	uncertain significance
rs199788797	11:102,480,660	C/G	—	likely pathogenic
rs786204826	11:102,480,674	T/C	missense variant	pathogenic
rs1859575199	11:102,480,698	C/T	—	uncertain significance

Showing 100 of 143 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.