Cloned (Comment) | Organism |
---|---|
MMP20 DNA and amino acid sequenced determination and analysis, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
H226Q | the missense mutation does not interfere with MMP20 expression, but completely abolish MMP-20 proteolytic activity. The enamel phenotype is an autosomal-recessive hypomaturation type of amelogenesis imperfecta | Homo sapiens |
additional information | identification of MMP20 mutations involved in amelogenesis imperfecta, a heterogeneous group of inherited enamel malformations | Homo sapiens |
W34X | the nonsense mutation results in no functional MMP20 during tooth formation | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
extracellular | MMP20 is secreted | Homo sapiens | - |
- |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | O60882 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
enamel | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
enamelysin | - |
Homo sapiens |
MMP20 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
additional information | genetic defects in MMP20 are involved in the hypomaturation-type enamel defect | Homo sapiens |
physiological function | MMP20 is important in amelogenesis, like kallikrein 4, mutations in the kallikrein 4, KLK4, and enamelysin, MMP20, genes cause autosomal-recessive amelogenesis imperfecta | Homo sapiens |