2h5g: Difference between revisions
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{{STRUCTURE_2h5g| PDB=2h5g | SCENE= }} | {{STRUCTURE_2h5g| PDB=2h5g | SCENE= }} | ||
===Crystal structure of human pyrroline-5-carboxylate synthetase=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/P5CS_HUMAN P5CS_HUMAN]] Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A) [MIM:[http://omim.org/entry/219150 219150]]. A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.<ref>PMID:11092761</ref><ref>PMID:18478038</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/P5CS_HUMAN P5CS_HUMAN]] Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.<ref>PMID:10037775</ref><ref>PMID:11092761</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[2h5g]] is a 2 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=2H5G OCA]. | [[2h5g]] is a 2 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=2H5G OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Glutamate-5-semialdehyde dehydrogenase]] | [[Category: Glutamate-5-semialdehyde dehydrogenase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
