LongevityMap Gene

Gene details

HGNC symbol
MMP20 
Aliases
AI2A2; MMP-20 
Common name
matrix metallopeptidase 20 
Description
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]
Cytogenetic Location
11q22.2
UCSC Genome Browser
View 11q22.2 on the UCSC genome browser
OMIM
604629
Ensembl
ENSG00000137674
UniProt/Swiss-Prot
MMP20_HUMAN
Entrez Gene
9313
UniGene
591946
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
C31B8.8
Mus musculus
Mmp20
Rattus norvegicus
Mmp20

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Dutch
Study Design
Genome-wide association study in 403 unrelated nonagenarians from long-living families and 1670 younger controls. Strongest candidates were then investigated in a meta-analysis of 4149 nonagenarian cases and 7582 younger controls.
Conclusions
No SNP reached significance in the GWAS but 62 SNPs, many in genes, had an indicative association with survival into old age. Of these 62 SNPs then studied in the meta-analysis, 61 were not significant.
Indentifier
rs10502005
Reference