Bioinformatics Database
MMP20: Matrix metallopeptidase 20
Cellular Process
Enamel formation
Gene Name
MMP20: Matrix metallopeptidase 20
Gene ID
9313
Gene Sequence
General 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.
Alternative titles; symbols
ENAMELYSIN
Chromosome
Chromosome 11
Cytogenetic location
11q22.2
Encoded Protein
Matrix metalloproteinase-20 preproprotein
Function of the protein in oral and tooth development
Llano et al. (1997) demonstrated that recombinant MMP20 could degrade amelogenin. They suggested that MMP20 plays a central role in tooth enamel formation.
Dental and Oral Diseases
Amelogenesis imperfecta, type IIA2
(OMIM ID: 604629)
Protein Sequence
>NP_004762.2 matrix metalloproteinase-20 preproprotein [Homo sapiens]
MKVLPASGLAVFLIMALKFSTAAPSLVAASPRTWRNNYRLAQAYLDKYYTNKEGHQIGEMVARGSNSMIR
KIKELQAFFGLQVTGKLDQTTMNVIKKPRCGVPDVANYRLFPGEPKWKKNTLTYRISKYTPSMSSVEVDK
AVEMALQAWSSAVPLSFVRINSGEADIMISFENGDHGDSYPFDGPRGTLAHAFAPGEGLGGDTHFDNAEK
WTMGTNGFNLFTVAAHEFGHALGLAHSTDPSALMYPTYKYKNPYGFHLPKDDVKGIQALYGPRKVFLGKP
TLPHAPHHKPSIPDLCDSSSSFDAVTMLGKELLLFKDRIFWRRQVHLRTGIRPSTITSSFPQLMSNVDAA
YEVAERGTAYFFKGPHYWITRGFQMQGPPRTIYDFGFPRHVQQIDAAVYLREPQKTLFFVGDEYYSYDER
KRKMEKDYPKNTEEEFSGVNGQIDAAVELNGYIYFFSGPKTYKYDTEKEDVVSVVKSSSWIGC
Mutations
IVS6AS, A-T, -2: Kim et al. (2005) identified a homozygous splice site mutation in the MMP20 gene: IVS6-2A-T.
HIS226GLN: Ozdemir et al. (2005) identified a homozygous g.16250T-A transversion in exon 5 of the MMP20 gene, resulting in a his226-to-gln (H226Q) substitution in a conserved zinc catalytic domain of the protein.
TRP34TER: Papagerakis et al. (2008) identified a homozygous 102G-A transition in the MMP20 gene, resulting in a trp34-to-ter (W34X) substitution.
HIS204ARG: Wang et al. (2013) identified a homozygous c.611A-G transition (c.611A-G, NM_004771.3) in exon 4 of the MMP20 gene, predicted to result in a his204-to-arg (H204R) substitution at a highly conserved residue, which coordinates a structural zinc ion.
Related Literature
Llano et al., (1997): https://doi.org/10.1021/bi972120y
Kim et al., (2005): https://doi.org/10.1136/jmg.2004.024505
Ozdemir et al., (2005): https://doi.org/10.1177/154405910508401112
Papagerakis et al., (2008): https://doi.org/10.1177/154405910808700109
Wang et al., (2013): https://doi.org/10.1177/0022034513475626
