BCKDHB

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]

Description

Branched chain keto acid dehydrogenase E1 subunit beta

Tissue specificity

Tissue enhanced (liver)

Subcell location

Nucleoplasm, Nucleoli, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (80106647 - 80346270)

Ensembl ID

ENSG00000083123  (ver. 103.38)

Orthologs

Mouse Bckdhb: ENSMUSG00000032263

UniProt

P21953

neXtProt

NX_P21953

Human splice variants
Mouse splice variants

Protein structure