2. Gene
  3. Bckdhb - branched chain ketoacid dehydrogenase E1, beta polypeptide Gene

Bckdhb - branched chain ketoacid dehydrogenase E1, beta polypeptide Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as BCKDE1B; BCKDH E1-beta

Gene ID: 12040 | Gene type: protein coding

About Bckdhb

Summary

This gene encodes the beta chain of the branched chain alpha ketoacid dehydrogenase (Bckdh) complex. The encoded protein exists in a heterotetrameric complex containing the Bckdh alpha subunit to form the E1 catalytic component of Bckdh complex. The Bckdh complex catalyzes the oxidative decarboxylation of branched chain ketoacids to their corresponding acyl-CoA esters, during the catabolism of leucine, isoleucine and valine. In humans, certain mutations in this gene cause maple syrup urine disease. Alternative splicing results in multiple transcript variants encoding different isoforms. A pseudogene for this gene has been identified. [provided by RefSeq, Apr 2015]

Bckdhb Products(4)

mRNA Protein Name
NM_001305935.1 NP_001292864.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1
NM_001410183.1 NP_001397112.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 3
NM_001410184.1 NP_001397113.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 4
NM_199195.1 NP_954665.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 2
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IDA
IDA: Inferred from direct assay
9611264 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

branched-chain alpha-keto acid dehydrogenase E1 component beta chain

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01410 BCKDHB Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Bckdhb NCBI NCBI:594