2nz2: Difference between revisions
m Protected "2nz2" [edit=sysop:move=sysop] |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_2nz2| PDB=2nz2 | SCENE= }} | {{STRUCTURE_2nz2| PDB=2nz2 | SCENE= }} | ||
===Crystal structure of human argininosuccinate synthase in complex with aspartate and citrulline=== | ===Crystal structure of human argininosuccinate synthase in complex with aspartate and citrulline=== | ||
{{ABSTRACT_PUBMED_18323623}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/ASSY_HUMAN ASSY_HUMAN]] Defects in ASS1 are the cause of citrullinemia type 1 (CTLN1) [MIM:[http://omim.org/entry/215700 215700]]. Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN1 usually manifests in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder CTLN1 form can develop later in childhood or adulthood.<ref>PMID:11941481</ref><ref>PMID:2358466</ref><ref>PMID:1943692</ref><ref>PMID:7977368</ref><ref>PMID:8792870</ref><ref>PMID:11708871</ref><ref>PMID:12815590</ref><ref>PMID:14680976</ref><ref>PMID:16475226</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[2nz2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2NZ2 OCA]. | [[2nz2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2NZ2 OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Argininosuccinate synthase]] | [[Category: Argininosuccinate synthase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||