HSD3B2 Back

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

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NCBI Description of HSD3B2
The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

HSD3B2 is highly significantly mutated in
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HSD3B2 is significantly mutated in
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HSD3B2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for HSD3B2