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Literature summary for 3.4.24.B6 extracted from

  • Lee, S.K.; Seymen, F.; Kang, H.Y.; Lee, K.E.; Gencay, K.; Tuna, B.; Kim, J.W.
    MMP20 hemopexin domain mutation in amelogenesis imperfecta (2010), J. Dent. Res., 89, 46-50.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.24.B6

Cloned(Commentary)

Cloned (Comment) Organism
MMP20 DNA and amino acid sequenced determination and analysis, genotyping Homo sapiens

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
extracellular MMP20 is secreted Homo sapiens
-
-

Organism

Organism UniProt Comment Textmining
Homo sapiens O60882
-
-

Source Tissue

Source Tissue Comment Organism Textmining
enamel
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
enamelysin
-
 Homo sapiens
MMP20
-
 Homo sapiens

General Information

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