EC Number   |
Protein Variants |
Reference |
|---|
   3.4.24.B6 | E227A |
inactive |
688001 |
| 3.4.24.B6 | E227A |
inactive mutant enzyme |
688001 |
| 3.4.24.B6 | E235A |
enzymatically inactive MMP-20 |
667722 |
| 3.4.24.B6 | E352K |
mutation identified in a family with hypomaturation-type enamel defect. Mutant protein is expressed at a normal level but secreted only minimally with proteolytic function. The homozygous change of glutamic acid to basic lysine in the hemopexin domain is predicted to result in a conformational change in MMP20 |
754268 |
| 3.4.24.B6 | H226Q |
mutation identified in patients with hypomaturation amelogenesis imperfecta. Affected persons show hypomaturation AI with dark brown discoloration. No functional MMP20 protein is found |
753705 |
| 3.4.24.B6 | 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 |
712589 |
| 3.4.24.B6 | more |
enamel from MMP-20 null mice is ca. 37% softer, contains 53% less bulk mineral and has 7-16% higher levels of water and protein per unit weight than wild type enamel |
-, 669647 |
| 3.4.24.B6 | more |
identification of MMP20 mutations involved in amelogenesis imperfecta, a heterogeneous group of inherited enamel malformations |
712589 |
| 3.4.24.B6 | more |
identification of single nucleotide polymorphisms rs2245803 and rs1711437 in MMP20 |
713340 |
| 3.4.24.B6 | T130I |
mutant protein has reduced activity of MMP20 |
753705 |
