Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BCKDHB Gene

Aliases for BCKDHB Gene

  • Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta 2 3 5
  • Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Beta Chain 3 4
  • Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide 2 3
  • 2-Oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial 2 3
  • BCKDH E1-Beta 3 4
  • EC 1.2.4.4 4 61
  • BCKDE1B 3 4
  • Branched Chain Alpha-Ketoacid Dehydrogenase E1-Beta Subunit 3
  • Testis Secretory Sperm-Binding Protein Li 240mP 3
  • E1b-Beta Subunit Of The Branched-Chain Complex 3
  • Maple Syrup Urine Disease 2
  • E1B 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

  • 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]

GeneCards Summary for BCKDHB Gene

BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta) 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 threonine degradation and Glyoxylate metabolism and glycine degradation. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCKDHB Gene

Genomics for BCKDHB Gene

Regulatory Elements for BCKDHB Gene

Enhancers for BCKDHB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G080163 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.8 +58.1 58073 3.0 TBP PKNOX1 JUN CEBPG RELA RFX5 FOSL1 ZNF316 GATA3 EED BCKDHB ENSG00000272129 GC06M080229
GH06G080143 0.9 Ensembl ENCODE 19.5 +37.0 37013 1.2 GTF2F1 ZNF146 NFIB CEBPB EP300 RAD21 JUND SMC3 STAT3 TCF7L2 BCKDHB GC06M080229
GH06G080331 0.7 dbSUPER 24.3 +225.9 225933 2.5 FEZF1 ATF2 OSR2 PRDM6 SMARCA4 ZNF341 ZSCAN5C POU5F1 NFE2 WT1 BCKDHB ENSG00000272129 GC06M080258
GH06G080179 0.7 dbSUPER 15.6 +75.0 74970 4.3 HCFC1 JUN CEBPB CEBPG DPF2 JUND GATA3 ZNF366 ZNF143 FOS BCKDHB ENSG00000272129 ENSG00000260645 GC06M080229
GH06G080105 1.1 ENCODE 7.9 0.0 -7 1.4 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 FOS ENSG00000272129 BCKDHB AK4P5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCKDHB on UCSC Golden Path with GeneCards custom track

Promoters for BCKDHB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000199230 74 1800 HDGF CREB3L1 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF143 FOS ZNF263

Genomic Location for BCKDHB Gene

Chromosome:
6
Start:
80,106,627 bp from pter
End:
80,346,270 bp from pter
Size:
239,644 bases
Orientation:
Plus strand

Genomic View for BCKDHB Gene

Genes around BCKDHB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCKDHB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P21953-ODBB_HUMAN
    Recommended name:
    2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
    Protein Accession:
    P21953
    Secondary Accessions:
    • Q5T2J3
    • Q9BQL0

    Protein attributes for BCKDHB Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for BCKDHB Gene

Selected DME Specific Peptides for BCKDHB Gene

P21953:
  • QKMNLFQ
  • EIQFADY
  • RVCGYDTPFP
  • HGALYHSQS
  • RVFNTPLCEQGI
  • FGGVFRCT

Post-translational modifications for BCKDHB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for BCKDHB Gene

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:0003826 alpha-ketoacid dehydrogenase activity IEA --
GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA,TAS --
GO:0005515 protein binding IPI 10745006
GO:0016491 oxidoreductase activity IEA --
GO:0016831 carboxy-lyase activity TAS 11839747
genes like me logo Genes that share ontologies with BCKDHB: view
genes like me logo Genes that share phenotypes with BCKDHB: view

Human Phenotype Ontology for BCKDHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for BCKDHB Gene

miRTarBase miRNAs that target BCKDHB

Inhibitory RNA Products

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCKDHB gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 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 & Interactions for BCKDHB Gene

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

Gene Ontology (GO) - Biological Process for BCKDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0046487 glyoxylate metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with BCKDHB: view

No data available for SIGNOR curated interactions for BCKDHB Gene

Drugs & Compounds for BCKDHB Gene

(6) Drugs for BCKDHB Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
thiamin diphosphate Experimental Pharma 0
2-Ketobutyric acid Experimental Pharma 0
alpha-ketoisovalerate Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0

(40) Additional Compounds for BCKDHB Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
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:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for BCKDHB Gene

GeneLoc Exon Structure for
BCKDHB
ECgene alternative splicing isoforms for
BCKDHB

Expression for BCKDHB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCKDHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCKDHB Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BCKDHB Gene



Protein tissue co-expression partners for BCKDHB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BCKDHB Gene:

BCKDHB

SOURCE GeneReport for Unigene cluster for BCKDHB Gene:

Hs.654441

Evidence on tissue expression from TISSUES for BCKDHB Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCKDHB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • pancreas
  • stomach
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with BCKDHB: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia BCKDHB 34 35
  • 99.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCKDHB 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCKDHB 34 35
  • 90.87 (n)
cow
(Bos Taurus)
Mammalia BCKDHB 34 35
  • 89.37 (n)
mouse
(Mus musculus)
Mammalia Bckdhb 34 16 35
  • 88.41 (n)
rat
(Rattus norvegicus)
Mammalia Bckdhb 34
  • 86.92 (n)
oppossum
(Monodelphis domestica)
Mammalia BCKDHB 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCKDHB 34 35
  • 78.89 (n)
lizard
(Anolis carolinensis)
Reptilia BCKDHB 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bckdhb 34
  • 76.45 (n)
Str.7016 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13025 34
zebrafish
(Danio rerio)
Actinopterygii BCKDHB (2 of 2) 35
  • 84 (a)
OneToMany
bckdhb 34 35
  • 73.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17691 36 34 35
  • 61.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007531 34
  • 61.02 (n)
worm
(Caenorhabditis elegans)
Secernentea F27D4.5 36
  • 65 (a)
tag-173 34 35
  • 64.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDB1 35
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BCDH BETA1 34
  • 63.57 (n)
soybean
(Glycine max)
eudicotyledons Gma.1242 34
rice
(Oryza sativa)
Liliopsida Os07g0170100 34
  • 61.04 (n)
Os.11982 34
wheat
(Triticum aestivum)
Liliopsida Ta.2558 34
corn
(Zea mays)
Liliopsida Zm.4420 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03913 34
  • 54.91 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11305 34
Species where no ortholog for BCKDHB was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for BCKDHB (if available)
TreeFam:
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
rs28934895 Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
rs371518124 Pathogenic, Maple syrup urine disease 1B (MSUD1B) [MIM:248600] 80,168,906(+) CTATC(A/C/G)CTCTG nc-transcript-variant, reference, missense
rs386834233 Pathogenic, Maple syrup urine disease 1B (MSUD1B) [MIM:248600] 80,201,023(+) CCTGG(A/G)GCACT nc-transcript-variant, reference, missense
VAR_004974 Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
VAR_068349 Maple syrup urine disease 1B (MSUD1B) [MIM:248600]

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

Variant ID Type Subtype PubMed ID
esv21744 CNV gain 19812545
esv2663059 CNV deletion 23128226
esv3571269 CNV loss 25503493
esv3576197 CNV gain 25503493
esv3576198 CNV gain 25503493
esv3609707 CNV gain 21293372
esv3609708 CNV gain 21293372
esv3609709 CNV loss 21293372
esv3890894 CNV gain 25118596
esv3890895 CNV loss 25118596
nsv1033452 CNV gain 25217958
nsv1077477 CNV duplication 25765185
nsv1133632 CNV deletion 24896259
nsv463907 CNV loss 19166990
nsv524214 CNV gain 19592680
nsv5371 CNV insertion 18451855
nsv604053 CNV loss 21841781
nsv830708 CNV gain 17160897

Variation tolerance for BCKDHB Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCKDHB Gene

Human Gene Mutation Database (HGMD)
BCKDHB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCKDHB

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

Disorders for BCKDHB Gene

MalaCards: The human disease database

(4) MalaCards diseases for BCKDHB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
maple syrup urine disease, type ii
  • dihydrolipoamide dehydrogenase deficiency
intermediate maple syrup urine disease
  • intermediate bckd deficiency
organic acidemia
  • organic acid metabolism disorder
amino acid metabolic disorder
  • inborn errors of amino acid metabolism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ODBB_HUMAN
  • 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.

Relevant External Links for BCKDHB

Genetic Association Database (GAD)
BCKDHB
Human Genome Epidemiology (HuGE) Navigator
BCKDHB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCKDHB
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 22 46 64
  2. Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD). (PMID: 22326532) Wang Y.P. … Zhao Y.J. (Gene 2012) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Molecular genetics of maple syrup urine disease in the Turkish population. (PMID: 19480318) Gorzelany K. … Wendel U. (Turk. J. Pediatr. 2009) 3 22 64

Products for BCKDHB Gene

Sources for BCKDHB Gene

Content
Loading form....