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Aliases for DBT Gene

Aliases for DBT Gene

  • Dihydrolipoamide Branched Chain Transacylase E2 2 3 5
  • Dihydrolipoyllysine-Residue (2-Methylpropanoyl)Transferase 2 3 4
  • Lipoamide Acyltransferase Component Of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex, Mitochondrial 2 3
  • Dihydrolipoamide Acetyltransferase Component Of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 3 4
  • Branched-Chain Alpha-Keto Acid Dehydrogenase Complex Component E2 3 4
  • 52 KDa Mitochondrial Autoantigen Of Primary Biliary Cirrhosis 3 4
  • Branched Chain 2-Oxo-Acid Dehydrogenase Complex Component E2 3 4
  • BCOADC-E2 3 4
  • BCKAD-E2 3 4
  • BCKADE2 3 4
  • BCATE2 3 4
  • Dihydrolipoamide Branched Chain Transacylase (E2 Component Of Branched Chain Keto Acid Dehydrogenase Complex; Maple Syrup Urine Disease) 2
  • Lipoamide Acyltransferase Component Of Mitochondrial Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 3
  • Mitochondrial Branched Chain Alpha-Keto Acid Dehydrogenase Transacylase Subunit (E2b) 3
  • E2 Component Of Branched Chain Alpha-Keto Acid Dehydrogenase Complex 3
  • Branched Chain Acyltransferase, E2 Component 3
  • Dihydrolipoamide Branched Chain Transacylase 4
  • Dihydrolipoyl Transacylase 3
  • BCKAD E2 Subunit 3
  • EC 2.3.1.168 4
  • E2B 3
  • E2 3

External Ids for DBT Gene

Previous GeneCards Identifiers for DBT Gene

  • GC01M101450
  • GC01M099840
  • GC01M099950
  • GC01M100122
  • GC01M100371
  • GC01M100652
  • GC01M098775

Summaries for DBT Gene

Entrez Gene Summary for DBT Gene

  • The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for DBT Gene

DBT (Dihydrolipoamide Branched Chain Transacylase E2) is a Protein Coding gene. Diseases associated with DBT include Maple Syrup Urine Disease, Type Ii and Intermediate Maple Syrup Urine Disease. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include ubiquitin protein ligase binding and dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity. An important paralog of this gene is DLAT.

UniProtKB/Swiss-Prot for DBT 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). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.

Gene Wiki entry for DBT Gene

Additional gene information for DBT Gene

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

Genomics for DBT Gene

Regulatory Elements for DBT Gene

Enhancers for DBT 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
GH01H100248 1.1 ENCODE 0.7 +0.2 220 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 RTCA FRRS1 ENSG00000230287 DBT
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DBT on UCSC Golden Path with GeneCards custom track

Promoters for DBT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000010619 163 1401 HDGF FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for DBT Gene

Chromosome:
1
Start:
100,186,919 bp from pter
End:
100,249,863 bp from pter
Size:
62,945 bases
Orientation:
Minus strand

Genomic View for DBT Gene

Genes around DBT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DBT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DBT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DBT Gene

Proteins for DBT Gene

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

    Protein Symbol:
    P11182-ODB2_HUMAN
    Recommended name:
    Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
    Protein Accession:
    P11182
    Secondary Accessions:
    • B2R811
    • Q5VVL8

    Protein attributes for DBT Gene

    Size:
    482 amino acids
    Molecular mass:
    53487 Da
    Cofactor:
    Name=(R)-lipoate; Xref=ChEBI:CHEBI:83088;
    Quaternary structure:
    • Forms a 24-polypeptide structural core with octahedral symmetry.
    SequenceCaution:
    • Sequence=AAA35589.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA64512.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DBT Gene

neXtProt entry for DBT Gene

Post-translational modifications for DBT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DBT Gene

No data available for DME Specific Peptides for DBT Gene

Domains & Families for DBT Gene

Gene Families for DBT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DBT Gene

Graphical View of Domain Structure for InterPro Entry

P11182

UniProtKB/Swiss-Prot:

ODB2_HUMAN :
  • Belongs to the 2-oxoacid dehydrogenase family.
Family:
  • Belongs to the 2-oxoacid dehydrogenase family.
genes like me logo Genes that share domains with DBT: view

Function for DBT Gene

Molecular function for DBT Gene

GENATLAS Biochemistry:
branched chain keto acid dehydrogenase complex,E2 component (dihydrolipoamide branched chain transacylase),inner mitochondrial membrane
UniProtKB/Swiss-Prot CatalyticActivity:
2-methylpropanoyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2-methylpropanoyl)dihydrolipoyl)lysine.
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). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.

Enzyme Numbers (IUBMB) for DBT Gene

Phenotypes From GWAS Catalog for DBT Gene

Gene Ontology (GO) - Molecular Function for DBT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0031625 ubiquitin protein ligase binding IPI 19725078
GO:0043754 dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity IEA --
genes like me logo Genes that share ontologies with DBT: view
genes like me logo Genes that share phenotypes with DBT: view

Human Phenotype Ontology for DBT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DBT Gene

MGI Knock Outs for DBT:

Animal Model Products

CRISPR Products

miRNA for DBT Gene

miRTarBase miRNAs that target DBT

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DBT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for DBT Gene

Localization for DBT Gene

Subcellular locations from UniProtKB/Swiss-Prot for DBT 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 DBT gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DBT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex TAS 1429740
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with DBT: view

Pathways & Interactions for DBT Gene

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

Gene Ontology (GO) - Biological Process for DBT 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 --
genes like me logo Genes that share ontologies with DBT: view

No data available for SIGNOR curated interactions for DBT Gene

Drugs & Compounds for DBT Gene

(30) Drugs for DBT Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citalopram Approved Pharma 520
Lipoic Acid Approved Nutra 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
Dexetimide Withdrawn Pharma Antagonist 520

(40) Additional Compounds for DBT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydrolipoamide
  • 6,8-Bis-sulfanyloctanamide
  • 6,8-Dimercapto-Octanamide
  • 6,8-Dimercaptooctanamide
  • 6,8-Disulfanyloctanamide
  • Dihydrolipoamide
3884-47-7
(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
genes like me logo Genes that share compounds with DBT: view

Transcripts for DBT Gene

Unigene Clusters for DBT Gene

Dihydrolipoamide branched chain transacylase E2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DBT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11
SP1: - -
SP2:

Relevant External Links for DBT Gene

GeneLoc Exon Structure for
DBT
ECgene alternative splicing isoforms for
DBT

Expression for DBT Gene

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

Protein differential expression in normal tissues from HIPED for DBT Gene

This gene is overexpressed in Heart (11.7) and Bone marrow mesenchymal stem cell (10.4).

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



Protein tissue co-expression partners for DBT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DBT Gene:

DBT

SOURCE GeneReport for Unigene cluster for DBT Gene:

Hs.709187

Evidence on tissue expression from TISSUES for DBT Gene

  • Liver(4.5)
  • Kidney(4.4)
  • Skin(4.1)
  • Nervous system(2.7)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DBT 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 DBT: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DBT Gene

Orthologs for DBT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DBT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DBT 33 34
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia DBT 33 34
  • 91.98 (n)
dog
(Canis familiaris)
Mammalia DBT 33 34
  • 91.84 (n)
mouse
(Mus musculus)
Mammalia Dbt 33 16 34
  • 84.99 (n)
rat
(Rattus norvegicus)
Mammalia Dbt 33
  • 84.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DBT 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves DBT 33 34
  • 76.14 (n)
lizard
(Anolis carolinensis)
Reptilia DBT 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dbt 33
  • 68.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32258 33
zebrafish
(Danio rerio)
Actinopterygii dbt 33 34
  • 65.76 (n)
Dr.13649 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.91 33
fruit fly
(Drosophila melanogaster)
Insecta CG5599 33 34 35
  • 54.55 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000549 33
  • 51.3 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK669.4 35 33 34
  • 57.26 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KGD2 34
  • 19 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BCE2 33
  • 53.32 (n)
rice
(Oryza sativa)
Liliopsida Os01g0314100 33
  • 54.11 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02704 33
  • 51.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
Species where no ortholog for DBT 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)
  • corn (Zea mays)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DBT Gene

ENSEMBL:
Gene Tree for DBT (if available)
TreeFam:
Gene Tree for DBT (if available)

Paralogs for DBT Gene

Paralogs for DBT Gene

Pseudogenes.org Pseudogenes for DBT Gene

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

Variants for DBT Gene

Sequence variations from dbSNP and Humsavar for DBT Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs12021720 Pathogenic, Maple syrup urine disease 2 (MSUD2) [MIM:248600] 100,206,504(+) CTGAC(C/T)CACAG reference, missense
VAR_004978 Maple syrup urine disease 2 (MSUD2) [MIM:248600]
VAR_015099 Maple syrup urine disease 2 (MSUD2) [MIM:248600]
rs121964999 Pathogenic 100,214,929(-) TCATT(G/T)TGGTT nc-transcript-variant, reference, missense
rs121965000 Pathogenic 100,196,256(-) GAAAT(G/T)AAGAC reference, stop-lost

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

Variant ID Type Subtype PubMed ID
esv2715318 CNV deletion 23290073
esv2715329 CNV deletion 23290073
esv2715340 CNV deletion 23290073
esv2715351 CNV deletion 23290073
nsv830804 CNV gain 17160897

Variation tolerance for DBT Gene

Residual Variation Intolerance Score: 72.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DBT Gene

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

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

Disorders for DBT Gene

MalaCards: The human disease database

(5) MalaCards diseases for DBT Gene - From: HGMD, 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
primary biliary cirrhosis
  • biliary liver cirrhosis
atrophy of testis
autoimmune disease of urogenital tract
- elite association - COSMIC cancer census association via MalaCards
Search DBT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ODB2_HUMAN
  • Maple syrup urine disease 2 (MSUD2) [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:1847055, ECO:0000269 PubMed:9621512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Patients with primary biliary cirrhosis (PBC) show autoantibodies against the E2 component of branched-chain alpha-keto acid dehydrogenase complex. PBC is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. {ECO:0000269 PubMed:2908870, ECO:0000269 PubMed:7543435, ECO:0000269 PubMed:9141421}.

Genatlas disease for DBT Gene

maple syrup urine disease

Relevant External Links for DBT

Genetic Association Database (GAD)
DBT
Human Genome Epidemiology (HuGE) Navigator
DBT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DBT
genes like me logo Genes that share disorders with DBT: view

Publications for DBT Gene

  1. Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene. (PMID: 1429740) Lau KS … Chuang DT (The Journal of biological chemistry 1992) 2 3 4 22 60
  2. The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex. (PMID: 1420314) Lau KS … Chuang DT (Biochimica et biophysica acta 1992) 2 3 4 22 60
  3. Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex. (PMID: 11839747) Chang CF … Huang TH (The Journal of biological chemistry 2002) 3 4 22 60
  4. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. (PMID: 9621512) Tsuruta M … Indo Y (Journal of human genetics 1998) 3 4 22 60
  5. A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. (PMID: 1847055) Fisher CW … Chuang DT (Biochemical and biophysical research communications 1991) 3 4 22 60

Products for DBT Gene

Sources for DBT Gene

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