1c9y: Difference between revisions
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{{STRUCTURE_1c9y| PDB=1c9y | SCENE= }} | {{STRUCTURE_1c9y| PDB=1c9y | SCENE= }} | ||
===HUMAN ORNITHINE TRANSCARBAMYLASE: CRYSTALLOGRAPHIC INSIGHTS INTO SUBSTRATE RECOGNITION AND CATALYTIC MECHANISM=== | ===HUMAN ORNITHINE TRANSCARBAMYLASE: CRYSTALLOGRAPHIC INSIGHTS INTO SUBSTRATE RECOGNITION AND CATALYTIC MECHANISM=== | ||
{{ABSTRACT_PUBMED_10813810}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/OTC_HUMAN OTC_HUMAN]] Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:[http://omim.org/entry/311250 311250]]. OTCD is an X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms.<ref>PMID:8081373</ref><ref>PMID:3170748</ref><ref>PMID:2474822</ref><ref>PMID:2347583</ref><ref>PMID:1671317</ref><ref>PMID:1721894</ref><ref>PMID:1480464</ref><ref>PMID:8099056</ref><ref>PMID:8019569</ref><ref>PMID:8081398</ref><ref>PMID:7951259</ref><ref>PMID:8530002</ref><ref>PMID:7474905</ref><ref>PMID:8807340</ref>[:]<ref>PMID:8956038</ref><ref>PMID:8956045</ref><ref>PMID:8830175</ref><ref>PMID:9286441</ref><ref>PMID:9065786</ref><ref>PMID:9143919</ref><ref>PMID:9266388</ref><ref>PMID:9452024</ref><ref>PMID:9452049</ref><ref>PMID:9452065</ref>[:]<ref>PMID:10502831</ref><ref>PMID:10070627</ref><ref>PMID:10737985</ref><ref>PMID:11793483</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010813810</ref><ref group="xtra">PMID:015731101</ref><ref group="xtra">PMID:016978047</ref><references group="xtra"/> | <ref group="xtra">PMID:010813810</ref><ref group="xtra">PMID:015731101</ref><ref group="xtra">PMID:016978047</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ornithine carbamoyltransferase]] | [[Category: Ornithine carbamoyltransferase]] | ||