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
- Danio rerio
- mmp20b
- Danio rerio
- mmp20a
- Drosophila melanogaster
- Mmp2
- 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