4l1x
From Proteopedia
(Difference between revisions)
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- | + | {{STRUCTURE_4l1x| PDB=4l1x | SCENE= }} | |
+ | ===Crystal Structuer of Human 3-alpha Hydroxysteroid Dehydrogenase Type 3 V54L Mutant in Complex with NADP+ and Progesterone=== | ||
+ | {{ABSTRACT_PUBMED_24434280}} | ||
- | + | ==Disease== | |
+ | [[http://www.uniprot.org/uniprot/AK1C2_HUMAN AK1C2_HUMAN]] Defects in AKR1C2 are a cause of 46,XY sex reversal type 8 (SRXY8) [MIM:[http://omim.org/entry/614279 614279]]. A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.<ref>PMID:21802064</ref> | ||
- | + | ==Function== | |
+ | [[http://www.uniprot.org/uniprot/AK1C2_HUMAN AK1C2_HUMAN]] Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability.<ref>PMID:8573067</ref> | ||
- | + | ==About this Structure== | |
+ | [[4l1x]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4L1X OCA]. | ||
+ | |||
+ | ==Reference== | ||
+ | <ref group="xtra">PMID:024434280</ref><references group="xtra"/><references/> | ||
+ | [[Category: Hu, X J.]] | ||
+ | [[Category: Lin, S X.]] | ||
+ | [[Category: Zhang, B.]] | ||
+ | [[Category: Akr]] | ||
+ | [[Category: Akr1c2]] | ||
+ | [[Category: Aldo-keto reductase]] | ||
+ | [[Category: Alpha-beta barrel]] | ||
+ | [[Category: Human 3-alpha hsd3]] | ||
+ | [[Category: Nadph]] | ||
+ | [[Category: Oxidoreductase]] |
Revision as of 09:47, 16 April 2014
Contents |
Crystal Structuer of Human 3-alpha Hydroxysteroid Dehydrogenase Type 3 V54L Mutant in Complex with NADP+ and Progesterone
Template:ABSTRACT PUBMED 24434280
Disease
[AK1C2_HUMAN] Defects in AKR1C2 are a cause of 46,XY sex reversal type 8 (SRXY8) [MIM:614279]. A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.[1]
Function
[AK1C2_HUMAN] Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability.[2]
About this Structure
4l1x is a 2 chain structure. Full crystallographic information is available from OCA.
Reference
- Zhang B, Zhu DW, Hu XJ, Zhou M, Shang P, Lin SX. Human 3-alpha hydroxysteroid dehydrogenase type 3 (3alpha-HSD3): The V54L mutation restricting the steroid alternative binding and enhancing the 20alpha-HSD activity. J Steroid Biochem Mol Biol. 2014 May;141:135-43. doi:, 10.1016/j.jsbmb.2014.01.003. Epub 2014 Jan 13. PMID:24434280 doi:http://dx.doi.org/10.1016/j.jsbmb.2014.01.003
- ↑ Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, Schoenle EJ, Biason-Lauber A. Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet. 2011 Aug 12;89(2):201-18. doi: 10.1016/j.ajhg.2011.06.009. Epub, 2011 Jul 28. PMID:21802064 doi:10.1016/j.ajhg.2011.06.009
- ↑ Hara A, Matsuura K, Tamada Y, Sato K, Miyabe Y, Deyashiki Y, Ishida N. Relationship of human liver dihydrodiol dehydrogenases to hepatic bile-acid-binding protein and an oxidoreductase of human colon cells. Biochem J. 1996 Jan 15;313 ( Pt 2):373-6. PMID:8573067