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Results 1 - 7 of 7
EC Number
Amino acid exchange
Commentary
Reference
E227A
inactive; inactive mutant enzyme
E235A
enzymatically inactive MMP-20
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
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
more
identification of MMP20 mutations involved in amelogenesis imperfecta, a heterogeneous group of inherited enamel malformations
more
identification of single nucleotide polymorphisms rs2245803 and rs1711437 in MMP20
W34X
the nonsense mutation results in no functional MMP20 during tooth formation
Results 1 - 7 of 7