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Literature summary for 3.4.24.B6 extracted from

  • Kim, J.; Simmer, J.P.; Hart, T.C.; Hart, P.S.; Ramaswami, M.D.; Bartlett, J.D.; Hu, J.C.
    MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta (2005), J. Med. Genet., 42, 271-275.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine first report of a homozygous mutation in the MMP-20 gene, the mutation destroys the splice acceptor sequence at the 3' end of intron 6 encoding the hemopexin domain, the enamel of the subjects' teeth is pigmented, its surface mottled and rough and the enamel layer more opaque than the underlying dentine Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
tooth
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
enamelysin
-
 Homo sapiens
MMP-20
-
 Homo sapiens