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2bdi
From Proteopedia
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| - | [[Image:2bdi.png|left|200px]] | ||
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{{STRUCTURE_2bdi| PDB=2bdi | SCENE= }} | {{STRUCTURE_2bdi| PDB=2bdi | SCENE= }} | ||
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===Human Kallikrein 4 complex with cobalt and p-aminobenzamidine=== | ===Human Kallikrein 4 complex with cobalt and p-aminobenzamidine=== | ||
| + | {{ABSTRACT_PUBMED_16950394}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/KLK4_HUMAN KLK4_HUMAN]] Defects in KLK4 are the cause of amelogenesis imperfecta hypomaturation type 2A1 (AI2A1) [MIM:[http://omim.org/entry/204700 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.<ref>PMID:15235027</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/KLK4_HUMAN KLK4_HUMAN]] Involved in enamel formation.<ref>PMID:15235027</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:016950394</ref><references group="xtra"/> | + | <ref group="xtra">PMID:016950394</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bode, W.]] | [[Category: Bode, W.]] | ||
Revision as of 05:35, 25 March 2013
Contents |
Human Kallikrein 4 complex with cobalt and p-aminobenzamidine
Template:ABSTRACT PUBMED 16950394
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]
About this Structure
2bdi is a 16 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Debela M, Magdolen V, Grimminger V, Sommerhoff C, Messerschmidt A, Huber R, Friedrich R, Bode W, Goettig P. Crystal structures of human tissue kallikrein 4: activity modulation by a specific zinc binding site. J Mol Biol. 2006 Oct 6;362(5):1094-107. Epub 2006 Aug 3. PMID:16950394 doi:10.1016/j.jmb.2006.08.003
- ↑ 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
