BDH1 Gene Summary [Human]

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. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
BDH1
Official Name
3-hydroxybutyrate dehydrogenase 1 [Source:HGNC Symbol;Acc:HGNC:1027]
Ensembl ID
ENSG00000161267
Bio databases IDs NCBI: 622 Ensembl: ENSG00000161267
Aliases 3-hydroxybutyrate dehydrogenase 1, short chain dehydrogenase/reductase family 9C, member 1
Synonyms 2310032J20Rik, 3-HYDROXYBUTYRATE DEHYDROGENASE, 3-hydroxybutyrate dehydrogenase 1, 3-hydroxybutyrate dehydrogenase, type 1, BDH, D-beta-hydroxybutyrate dehydrogenase, D-β-hydroxybutyrate dehydrogenase, SDR9C1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BDH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Rossmann-fold NAD(P)(+)-binding proteins
  • phospholipid binding
  • sepiapterin reductase
  • 3-hydroxybutyrate dehydrogenase
  • 3-oxoacyl-(acyl-carrier-protein) reductase
  • pteridine reductase
  • enzyme
  • Enoyl-(Acyl carrier protein) reductase
  • short chain dehydrogenase

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • liver cancer
  • uterine leiomyoma
  • hepatocellular carcinoma
  • gastroesophageal reflux
  • leiomyomatosis
  • lung adenocarcinoma
  • lung adenocarcinoma formation
  • diabetic nephropathy
  • hyperglycemia
regulated by
regulates
role in cell
  • expression in
  • phosphorylation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial matrix
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BDH1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • steroid metabolic process

Cellular Component

Where in the cell the gene product is active
  • mitochondrial matrix
  • intracellular membrane-bounded organelle
  • mitochondrion

Molecular Function

What the gene product does at the molecular level
  • 3-hydroxybutyrate dehydrogenase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.