Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.4.21.B12 extracted from

  • Hart, P.S.; Hart, T.C.; Michalec, M.D.; Ryu, O.H.; Simmons, D.; Hong, S.; Wright, J.T.
    Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta (2004), J. Med. Genet., 41, 545-549.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.21.B12

Application

Application Comment Organism
medicine naturally occuring gene mutation G214A results in a truncated enzyme that lacks residue S207 of the catalytic triad. Mutation affects tooth enamel formation causing the enamel crystallites to grow incompletely in thickness or width but to normal length, i.e. autosomal recessive hypomaturation amelogenesis imperfecta Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information naturally occuring gene mutation G214A results in a truncated enzyme that lacks residue S207 of the catalytic triad. Mutation affects tooth enamel formation causing the enamel crystallites to grow incompletely in thickness or width but to normal length, i.e. autosomal recessive hypomaturation amelogenesis imperfecta Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-