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  Domain Name: 3Beta_HSD
3-beta hydroxysteroid dehydrogenase/isomerase family. The enzyme 3 beta-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase (3 beta-HSD) catalyzes the oxidation and isomerisation of 5-ene-3 beta-hydroxypregnene and 5-ene-hydroxyandrostene steroid precursors into the corresponding 4-ene-ketosteroids necessary for the formation of all classes of steroid hormones.
No pairwise interactions found for the domain 3Beta_HSD

Total Mutations Found: 34
Total Disease Mutations Found: 29
This domain occurred 9 times on human genes (16 proteins).



  3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
  ADRENAL HYPERPLASIA 2 (AH2)
  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
  CHILD SYNDROME
  EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG)
  GALACTOSE EPIMERASE DEFICIENCY
  GALACTOSE EPIMERASE DEFICIENCY, SEVERE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for 3Beta_HSD













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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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