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2h5g

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[[Image:2h5g.png|left|200px]]
 
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{{STRUCTURE_2h5g| PDB=2h5g | SCENE= }}
{{STRUCTURE_2h5g| PDB=2h5g | SCENE= }}
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===Crystal structure of human pyrroline-5-carboxylate synthetase===
===Crystal structure of human pyrroline-5-carboxylate synthetase===
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==Disease==
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[[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>
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==Function==
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[[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].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Glutamate-5-semialdehyde dehydrogenase]]
[[Category: Glutamate-5-semialdehyde dehydrogenase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 20:56, 24 March 2013

Template:STRUCTURE 2h5g

Contents

Crystal structure of human pyrroline-5-carboxylate synthetase

Disease

[P5CS_HUMAN] Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A) [MIM: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.[1][2]

Function

[P5CS_HUMAN] Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.[3][4]

About this Structure

2h5g is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  1. ↑ Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet. 2000 Nov 22;9(19):2853-8. PMID:11092761
  2. ↑ Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet. 2008 Oct;16(10):1176-86. doi: 10.1038/ejhg.2008.91. Epub 2008, May 14. PMID:18478038 doi:10.1038/ejhg.2008.91
  3. ↑ Hu CA, Lin WW, Obie C, Valle D. Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. J Biol Chem. 1999 Mar 5;274(10):6754-62. PMID:10037775
  4. ↑ Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet. 2000 Nov 22;9(19):2853-8. PMID:11092761

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