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

• P21953
• Q5T2J3
• Q9BQL0

Gene Name

• BCKDHB

Ensembl ID

• ENST00000320393
• ENSP00000318351
• ENSG00000083123
• ENST00000356489
• ENSP00000348880
• ENST00000369760
• ENSP00000358775

Symbol

• E1B
• BCKDE1B
• BCKDH E1-beta

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

Protein Classes

PANTHER Classes

Protein / Transferase / Transketolase / 2-oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial

Protein / Oxidoreductase / Dehydrogenase / 2-oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial

Protein / Lyase / 2-oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial

DTO Classes

Protein / Enzyme / Oxidoreductase / Dehydrogenase / 2-oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial

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: 24   (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: 24   (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