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Aliases for BCKDHB Gene

Aliases for BCKDHB Gene

  • Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide 2 3
  • Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Beta Chain 3 4
  • BCKDH E1-Beta 3 4
  • EC 4 63
  • BCKDE1B 3 4
  • E1B 3 6
  • Branched Chain Alpha-Ketoacid Dehydrogenase E1-Beta Subunit 3
  • 2-Oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial 3
  • E1b-Beta Subunit Of The Branched-Chain Complex 3
  • 2-Oxoisovalerate Dehydrogenase Beta Subunit 3
  • Maple Syrup Urine Disease 2
  • DJ279A18.1 3

External Ids for BCKDHB Gene

Previous GeneCards Identifiers for BCKDHB Gene

  • GC06P080759
  • GC06P080811
  • GC06P080873
  • GC06P078039
  • GC06P080816

Summaries for BCKDHB Gene

Entrez Gene Summary for BCKDHB Gene

  • Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein 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 transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]

GeneCards Summary for BCKDHB Gene

BCKDHB (Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide) is a Protein Coding gene. Diseases associated with BCKDHB include maple syrup urine disease, type ii and intermediate maple syrup urine disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein complex binding and alpha-ketoacid dehydrogenase activity. An important paralog of this gene is PDHB.

UniProtKB/Swiss-Prot for BCKDHB Gene

  • 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)

Gene Wiki entry for BCKDHB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCKDHB Gene

Genomics for BCKDHB Gene

Regulatory Elements for BCKDHB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BCKDHB Gene

80,106,627 bp from pter
80,346,270 bp from pter
239,644 bases
Plus strand

Genomic View for BCKDHB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BCKDHB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCKDHB Gene

Proteins for BCKDHB Gene

  • Protein details for BCKDHB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q5T2J3
    • Q9BQL0

    Protein attributes for BCKDHB Gene

    392 amino acids
    Molecular mass:
    43122 Da
    Quaternary structure:
    • Heterotetramer of 2 alpha and 2 beta chains

    Three dimensional structures from OCA and Proteopedia for BCKDHB Gene

    Alternative splice isoforms for BCKDHB Gene


neXtProt entry for BCKDHB Gene

Proteomics data for BCKDHB Gene at MOPED

Selected DME Specific Peptides for BCKDHB Gene

Post-translational modifications for BCKDHB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCKDHB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for BCKDHB Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BCKDHB: view

No data available for Gene Families and UniProtKB/Swiss-Prot for BCKDHB Gene

Function for BCKDHB Gene

Molecular function for BCKDHB Gene

GENATLAS Biochemistry:
branched chain keto acid dehydrogenase E1,beta polypeptide,inner mitochondrial membrane
UniProtKB/Swiss-Prot CatalyticActivity:
3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] S-(2-methylpropanoyl)dihydrolipoyllysine + CO(2)
UniProtKB/Swiss-Prot Function:
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)

Enzyme Numbers (IUBMB) for BCKDHB Gene

Gene Ontology (GO) - Molecular Function for BCKDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003826 alpha-ketoacid dehydrogenase activity IEA --
GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA --
GO:0005515 protein binding IPI 10745006
GO:0016831 carboxy-lyase activity TAS 11839747
genes like me logo Genes that share ontologies with BCKDHB: view

Phenotypes for BCKDHB Gene

GenomeRNAi human phenotypes for BCKDHB:
genes like me logo Genes that share phenotypes with BCKDHB: view

Animal Model Products

miRNA for BCKDHB Gene

miRTarBase miRNAs that target BCKDHB

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for BCKDHB Gene

Localization for BCKDHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCKDHB Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for BCKDHB Gene COMPARTMENTS Subcellular localization image for BCKDHB gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BCKDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IMP 2022752
GO:0005759 mitochondrial matrix TAS --
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex IMP 2022752
genes like me logo Genes that share ontologies with BCKDHB: view

Pathways for BCKDHB Gene

genes like me logo Genes that share pathways with BCKDHB: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Amino Acid Metabolism II in human,mouse,rat

Gene Ontology (GO) - Biological Process for BCKDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007584 response to nutrient IEA --
GO:0008152 metabolic process --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with BCKDHB: view

Drugs for BCKDHB Gene

(45) HMDB Compounds for BCKDHB Gene

Compound Synonyms Cas Number PubMed IDs
  • (E)-S-2-decenoate
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (E)-S-2-octenoate
  • (2E)-Tetradecenoyl-CoA

(2) Novoseek inferred chemical compound relationships for BCKDHB Gene

Compound -log(P) Hits PubMed IDs
thiamin diphosphate 81.6 8
pyruvate 40.2 3
genes like me logo Genes that share compounds with BCKDHB: view

Transcripts for BCKDHB Gene

Unigene Clusters for BCKDHB Gene

Branched chain keto acid dehydrogenase E1, beta polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BCKDHB Gene

No ASD Table

Relevant External Links for BCKDHB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BCKDHB Gene

mRNA expression in normal human tissues for BCKDHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for BCKDHB Gene

This gene is overexpressed in Heart (10.6), Liver (8.8), and Islet of Langerhans (7.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCKDHB Gene

SOURCE GeneReport for Unigene cluster for BCKDHB Gene Hs.654441

genes like me logo Genes that share expressions with BCKDHB: view

Expression partners for BCKDHB Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BCKDHB Gene

Orthologs for BCKDHB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCKDHB Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BCKDHB 35
  • 89.37 (n)
  • 93.62 (a)
  • 56 (a)
(Canis familiaris)
Mammalia BCKDHB 35
  • 90.87 (n)
  • 93.28 (a)
  • 93 (a)
(Mus musculus)
Mammalia Bckdhb 35
  • 88.41 (n)
  • 97.2 (a)
Bckdhb 16
Bckdhb 36
  • 97 (a)
(Pan troglodytes)
Mammalia BCKDHB 35
  • 99.49 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Bckdhb 35
  • 86.92 (n)
  • 92.31 (a)
(Monodelphis domestica)
Mammalia BCKDHB 36
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia BCKDHB 36
  • 92 (a)
(Gallus gallus)
Aves BCKDHB 35
  • 78.89 (n)
  • 86.28 (a)
  • 86 (a)
(Anolis carolinensis)
Reptilia BCKDHB 36
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bckdhb 35
  • 76.45 (n)
  • 90.12 (a)
Str.7016 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13025 35
(Danio rerio)
Actinopterygii bckdhb 35
  • 73.99 (n)
  • 83.94 (a)
bckdhb 36
  • 66 (a)
BCKDHB (2 of 2) 36
  • 84 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17691 37
  • 66 (a)
CG17691 35
  • 61.03 (n)
  • 65.58 (a)
CG17691 36
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007531 35
  • 61.02 (n)
  • 65.25 (a)
(Caenorhabditis elegans)
Secernentea F27D4.5 37
  • 65 (a)
tag-173 35
  • 64.46 (n)
  • 66.28 (a)
tag-173 36
  • 63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDB1 36
  • 32 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons BCDH BETA1 35
  • 63.57 (n)
  • 67.8 (a)
(Glycine max)
eudicotyledons Gma.1242 35
(Oryza sativa)
Liliopsida Os.11982 35
Os07g0170100 35
  • 61.04 (n)
  • 64.11 (a)
(Triticum aestivum)
Liliopsida Ta.2558 35
(Zea mays)
Liliopsida Zm.4420 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11305 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03913 35
  • 54.91 (n)
  • 54.05 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
Species with no ortholog for BCKDHB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for BCKDHB Gene

Gene Tree for BCKDHB (if available)
Gene Tree for BCKDHB (if available)

Paralogs for BCKDHB Gene

Paralogs for BCKDHB Gene

(1) SIMAP similar genes for BCKDHB Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BCKDHB: view

Variants for BCKDHB Gene

Sequence variations from dbSNP and Humsavar for BCKDHB Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs10864 -- 80,346,086(+) CATCA(C/T)GATAT utr-variant-3-prime
rs15062 -- 80,346,075(+) ATTAA(A/G)TGAAC utr-variant-3-prime
rs581860 -- 80,285,127(-) TAAAG(C/T)ATAAA intron-variant
rs583426 -- 80,236,970(-) CATTC(C/T)ACTGC intron-variant
rs584372 -- 80,271,147(-) GCAAC(G/T)TATCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCKDHB Gene

Variant ID Type Subtype PubMed ID
nsv5371 CNV Insertion 18451855
nsv830708 CNV Gain 17160897
nsv524214 CNV Gain 19592680
nsv886309 CNV Gain 21882294
nsv886310 CNV Gain 21882294
esv2663059 CNV Deletion 23128226
esv21744 CNV Gain 19812545
nsv463907 CNV Loss 19166990

Relevant External Links for BCKDHB Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCKDHB Gene

Disorders for BCKDHB Gene

(1) OMIM Diseases for BCKDHB Gene (248611)


  • Maple syrup urine disease 1B (MSUD1B) [MIM:248600]: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. {ECO:0000269 PubMed:11509994, ECO:0000269 PubMed:22326532, ECO:0000269 PubMed:8161368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for BCKDHB Gene

(1) Novoseek inferred disease relationships for BCKDHB Gene

Disease -log(P) Hits PubMed IDs
maple syrup urine disease 91.2 3

Relevant External Links for BCKDHB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with BCKDHB: view

No data available for Genatlas for BCKDHB Gene

Publications for BCKDHB Gene

  1. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. (PMID: 11509994) Edelmann L. … Diaz G.A. (Am. J. Hum. Genet. 2001) 3 4 23 48
  2. Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31. (PMID: 1889817) Zneimer S.M. … Cox R.P. (Genomics 1991) 3 23
  3. Roles of His291-alpha and His146-beta' in the reductive acylation reaction catalyzed by human branched-chain alpha-ketoacid dehydrogenase: refined phosphorylation loop structure in the active site. (PMID: 12902323) Wynn R.M. … Chuang D.T. (J. Biol. Chem. 2003) 3 23
  4. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease. (PMID: 17922217) Flaschker N. … Wendel U. (J. Inherit. Metab. Dis. 2007) 3 23
  5. Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. (PMID: 18378174) Quental S. … Prata M.J. (Mol. Genet. Metab. 2008) 3 23

Products for BCKDHB Gene

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