2w8q
From Proteopedia
(Difference between revisions)
| Line 1: | Line 1: | ||
| - | [[Image:2w8q.png|left|200px]] | ||
| - | |||
{{STRUCTURE_2w8q| PDB=2w8q | SCENE= }} | {{STRUCTURE_2w8q| PDB=2w8q | SCENE= }} | ||
| - | |||
===THE CRYSTAL STRUCTURE OF HUMAN SSADH IN COMPLEX WITH SSA.=== | ===THE CRYSTAL STRUCTURE OF HUMAN SSADH IN COMPLEX WITH SSA.=== | ||
| + | {{ABSTRACT_PUBMED_19300440}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/SSDH_HUMAN SSDH_HUMAN]] Defects in ALDH5A1 are the cause of succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:[http://omim.org/entry/271980 271980]]. SSADH deficiency is a rare inborn error in the metabolism of 4-aminobutyric acid (GABA) which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is characterized by severe ataxia and by mildly retarded psychomotor development. | ||
| + | |||
| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/SSDH_HUMAN SSDH_HUMAN]] Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).<ref>PMID:19300440</ref> | ||
==About this Structure== | ==About this Structure== | ||
| Line 14: | Line 16: | ||
==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:019300440</ref><references group="xtra"/> | + | <ref group="xtra">PMID:019300440</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Succinate-semialdehyde dehydrogenase]] | [[Category: Succinate-semialdehyde dehydrogenase]] | ||
Revision as of 00:45, 25 March 2013
Contents |
THE CRYSTAL STRUCTURE OF HUMAN SSADH IN COMPLEX WITH SSA.
Template:ABSTRACT PUBMED 19300440
Disease
[SSDH_HUMAN] Defects in ALDH5A1 are the cause of succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]. SSADH deficiency is a rare inborn error in the metabolism of 4-aminobutyric acid (GABA) which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is characterized by severe ataxia and by mildly retarded psychomotor development.
Function
[SSDH_HUMAN] Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).[1]
About this Structure
2w8q is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Kim YG, Lee S, Kwon OS, Park SY, Lee SJ, Park BJ, Kim KJ. Redox-switch modulation of human SSADH by dynamic catalytic loop. EMBO J. 2009 Apr 8;28(7):959-68. Epub 2009 Mar 19. PMID:19300440 doi:10.1038/emboj.2009.40
- ↑ Kim YG, Lee S, Kwon OS, Park SY, Lee SJ, Park BJ, Kim KJ. Redox-switch modulation of human SSADH by dynamic catalytic loop. EMBO J. 2009 Apr 8;28(7):959-68. Epub 2009 Mar 19. PMID:19300440 doi:10.1038/emboj.2009.40
