BCKDHB

Entrez Summary: 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 Summary: 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).

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

Transket pyr
Transketolase C

3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
alpha-ketoacid dehydrogenase activity
mitochondrial alpha-ketoglutarate dehydrogenase complex
branched-chain amino acid metabolic process
branched-chain amino acid catabolic process
cellular amino acid catabolic process
response to nutrient
organic acid catabolic process
carboxylic acid catabolic process
cellular amino acid metabolic process
mitochondrial matrix
small molecule catabolic process
response to nutrient levels
response to extracellular stimulus
carboxylic acid metabolic process
oxidation-reduction process
oxoacid metabolic process
organic acid metabolic process
organonitrogen compound catabolic process
mitochondrion
small molecule metabolic process
organic substance catabolic process
cellular catabolic process