You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
BCKDHB
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

Protein Summary
Description
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000320393
  • ENSP00000318351
  • ENSG00000083123
  • ENST00000356489
  • ENSP00000348880
  • ENST00000369760
  • ENSP00000358775

Symbol
  • E1B
  • BCKDE1B
  • BCKDH E1-beta
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
kinase perturbation
1
transcription factor perturbation
0.97
disease perturbation
0.93
histone modification site profile
0.75
cellular component
0.71


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 59.12   (req: < 5)
Gene RIFs: 20   (req: <= 3)
Antibodies: 94   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 59.12   (req: >= 5)
Gene RIFs: 20   (req: > 3)
Antibodies: 94   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0