3buv

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[[Image:3buv.png|left|200px]]
 
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{{STRUCTURE_3buv| PDB=3buv | SCENE= }}
{{STRUCTURE_3buv| PDB=3buv | SCENE= }}
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===Crystal structure of human Delta(4)-3-ketosteroid 5-beta-reductase in complex with NADP and HEPES. Resolution: 1.35 A.===
===Crystal structure of human Delta(4)-3-ketosteroid 5-beta-reductase in complex with NADP and HEPES. Resolution: 1.35 A.===
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{{ABSTRACT_PUBMED_18407998}}
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{{ABSTRACT_PUBMED_18407998}}
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==Disease==
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[[http://www.uniprot.org/uniprot/AK1D1_HUMAN AK1D1_HUMAN]] Defects in AKR1D1 are the cause of congenital bile acid synthesis defect type 2 (CBAS2) [MIM:[http://omim.org/entry/235555 235555]]; also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine.<ref>PMID:12970144</ref><ref>PMID:15030995</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/AK1D1_HUMAN AK1D1_HUMAN]] Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one can also act as substrates.
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:018407998</ref><references group="xtra"/>
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<ref group="xtra">PMID:018407998</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Christianson, D W.]]
[[Category: Christianson, D W.]]

Revision as of 05:01, 25 March 2013

Template:STRUCTURE 3buv

Contents

Crystal structure of human Delta(4)-3-ketosteroid 5-beta-reductase in complex with NADP and HEPES. Resolution: 1.35 A.

Template:ABSTRACT PUBMED 18407998

Disease

[AK1D1_HUMAN] Defects in AKR1D1 are the cause of congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]; also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine.[1][2]

Function

[AK1D1_HUMAN] Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one can also act as substrates.

About this Structure

3buv is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Di Costanzo L, Drury JE, Penning TM, Christianson DW. Crystal structure of human liver Delta4-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis. J Biol Chem. 2008 Jun 13;283(24):16830-9. Epub 2008 Apr 11. PMID:18407998 doi:http://dx.doi.org/10.1074/jbc.M801778200
  1. ↑ Lemonde HA, Custard EJ, Bouquet J, Duran M, Overmars H, Scambler PJ, Clayton PT. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut. 2003 Oct;52(10):1494-9. PMID:12970144
  2. ↑ Gonzales E, Cresteil D, Baussan C, Dabadie A, Gerhardt MF, Jacquemin E. SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. J Hepatol. 2004 Apr;40(4):716-8. PMID:15030995 doi:10.1016/j.jhep.2003.12.024

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OCA

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