Literature summary for 3.4.24.B6 extracted from

Seymen, F.; Park, J.C.; Lee, K.E.; Lee, H.K.; Lee, D.S.; Koruyucu, M.; Gencay, K.; Bayram, M.; Tuna, E.B.; Lee, Z.H.; Kim, Y.J.; Kim, J.W.
Novel MMP20 and KLK4 mutations in amelogenesis imperfecta (2015), J. Dent. Res., 94, 1063-1069 .

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Protein Variants

Protein Variants	Comment	Organism
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	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O60882	-	-

Synonyms

Synonyms	Comment	Organism
enamelysin	-	Homo sapiens
MMP20	-	Homo sapiens

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Release 2023.1 (January 2023)