BDH1 Back

3-hydroxybutyrate dehydrogenase, type 1

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NCBI Description of BDH1

This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described.

Community Annotation of BDH1 Add / Edit BDH1: Annotations

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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

BDH1 is highly significantly mutated in
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BDH1 is significantly mutated in
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BDH1 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 BDH1