2w8q

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Template:STRUCTURE 2w8q

Contents 1 THE CRYSTAL STRUCTURE OF HUMAN SSADH IN COMPLEX WITH SSA. 2 Disease 3 Function 4 About this Structure 5 See Also 6 Reference

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

• Aldehyde dehydrogenase

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

1. ↑ 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