2w8p: Difference between revisions
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{{STRUCTURE_2w8p| PDB=2w8p | SCENE= }} | {{STRUCTURE_2w8p| PDB=2w8p | SCENE= }} | ||
===THE CRYSTAL STRUCTURE OF HUMAN C340A SSADH=== | |||
{{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== | ||
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==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]] | ||
