Functional |
"MMP20 diverged from other matrix metalloproteinase loci prior to the common ancestry of tetrapods [24], and plays a key role in processing structural proteins (amelogenin, ameloblastin, enamelin) that are secreted into the extracellular matrix by ameloblasts during the secretory stage of enamel formation [23,25–28]." |
10.1098/rspb.2010.1280 |
Mutation Description |
"We also discovered an opal stop codon (‘TGA’) in the propeptide-coding region of MMP20 exon 2 in a single individual of the pygmy sperm whale, Kogia breviceps (electronic supplementary material, alignment 1)." |
10.1098/rspb.2010.1280 |
Mutation Description |
"Indeed, the stop codon in K. breviceps was only present in one of three individuals surveyed here,
and also was absent in five individuals of K. sima (electronic supplementary material, alignment 1)." |
10.1098/rspb.2010.1280 |
Phenotypic |
"Given that MMP20 is required for proper processing of amelogenin, ameloblastin and enamelin, and may also be required for KLK4 activation; this insert provides compelling evidence that normal enamel formation was abrogated no later than the date of this SINE insertion." |
10.1098/rspb.2010.1280 |