Structural highlights
4kga is a 2 chain structure. Full crystallographic information is available from OCA.
Ligands: ,
Related: 2bdg, 2bdi, 2bdh, 4kel, 4k8y, 4k1e
Activity: Glucokinase, with EC number 2.7.1.2
Resources: FirstGlance, OCA, RCSB, PDBsum
Disease
[KLK4_HUMAN] Defects in KLK4 are the cause of amelogenesis imperfecta hypomaturation type 2A1 (AI2A1) [MIM:204700]. AI2A1 is an autosomal recessive defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.[1]
Function
[KLK4_HUMAN] Involved in enamel formation.[2]
References
- ↑ Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet. 2004 Jul;41(7):545-9. PMID:15235027
- ↑ Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet. 2004 Jul;41(7):545-9. PMID:15235027
