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Aliases for BCKDHA Gene

Aliases for BCKDHA Gene

  • Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide 2 3 5
  • Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Alpha Chain 3 4
  • 2-Oxoisovalerate Dehydrogenase (Lipoamide) 2 3
  • BCKDH E1-Alpha 3 4
  • EC 1.2.4.4 4 56
  • BCKDE1A 3 4
  • Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide (Maple Syrup Urine Disease) 2
  • 2-Oxoisovalerate Dehydrogenase Subunit Alpha, Mitochondrial 3
  • Branched Chain Keto Acid Dehydrogenase E1 Alpha Protein 3
  • Maple Syrup Urine Disease 2
  • MSUD1 3
  • OVD1A 3
  • MSU 3

External Ids for BCKDHA Gene

Previous HGNC Symbols for BCKDHA Gene

  • OVD1A

Previous GeneCards Identifiers for BCKDHA Gene

  • GC19P042543
  • GC19P042295
  • GC19P046579
  • GC19P046595
  • GC19P041903
  • GC19P038335
  • GC19P041857
  • GC19P041884

Summaries for BCKDHA Gene

Entrez Gene Summary for BCKDHA Gene

  • The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GeneCards Summary for BCKDHA Gene

BCKDHA (Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide) is a Protein Coding gene. Diseases associated with BCKDHA include Maple Syrup Urine Disease and Intermediate Maple Syrup Urine Disease. Among its related pathways are Glyoxylate metabolism and glycine degradation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include carboxy-lyase activity and alpha-ketoacid dehydrogenase activity. An important paralog of this gene is ENSG00000255730.

UniProtKB/Swiss-Prot for BCKDHA 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 BCKDHA Gene

Additional gene information for BCKDHA Gene

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

Genomics for BCKDHA Gene

GeneHancer (GH) Regulatory Elements for BCKDHA Gene

Promoters and enhancers for BCKDHA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I041394 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 562 -0.5 -495 4.9 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 EXOSC5 BCKDHA TMEM91 ZNF526 HNRNPUL1 SNRPA CCDC97 ENSG00000269843 ENSG00000268366 SERTAD3
GH19I041261 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 -132.6 -132610 7.3 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D HNRNPUL1 ZNF526 ZNF574 CCDC97 SNRPA ENSG00000269843 CYP2F2P NUMBL ITPKC SPTBN4
GH19I041424 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.4 +29.6 29552 5 HDGF FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF766 GLIS2 ENSG00000268475 B3GNT8 TMEM91 EXOSC5 DMAC2 ZNF574 SPTBN4 BCKDHA TGFB1 MEGF8
GH19I041438 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.9 +42.2 42215 1.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B DMAC2 GC19M041438 EXOSC5 CCDC97 SNRPA ZNF526 ENSG00000269843 HNRNPUL1 SERTAD3 BCKDHA
GH19I041547 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 +155.3 155267 10.5 HDGF HDAC1 PKNOX1 SMAD1 ZBTB7B ZNF335 SCRT2 ETV6 IKZF2 RUNX3 CEACAM21 ENSG00000280014 CEACAMP3 DMAC2 ERICH4 BCKDHA EXOSC5 LINC01480 ENSG00000268355 TMEM91
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BCKDHA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCKDHA gene promoter:

Genomic Locations for BCKDHA Gene

Genomic Locations for BCKDHA Gene
chr19:41,397,460-41,425,005
(GRCh38/hg38)
Size:
27,546 bases
Orientation:
Plus strand
chr19:41,884,215-41,930,910
(GRCh37/hg19)

Genomic View for BCKDHA Gene

Genes around BCKDHA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BCKDHA Gene

Proteins for BCKDHA Gene

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

    Protein Symbol:
    P12694-ODBA_HUMAN
    Recommended name:
    2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
    Protein Accession:
    P12694
    Secondary Accessions:
    • B4DP47
    • E7EW46
    • Q16034
    • Q16472

    Protein attributes for BCKDHA Gene

    Size:
    445 amino acids
    Molecular mass:
    50471 Da
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    • Heterotetramer of alpha and beta chains.
    Miscellaneous:
    • Bound potassium ions stabilize the protein structure.
    SequenceCaution:
    • Sequence=AAB59549.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCKDHA Gene

    Alternative splice isoforms for BCKDHA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCKDHA Gene

Selected DME Specific Peptides for BCKDHA Gene

P12694:
  • GHHSTSDDSS
  • GRISFYMTNYGEEGTHVGSAAAL
  • YFGEGAASEGD
  • SLDDKPQFPGASAEF
  • SMTLLNTMDRILYESQR
  • QQESLARHLQTYGEHYPLDHF
  • KVMEAFEQAERK
  • TDLVFGQYREAGVLMYRDYPLELFM
  • SIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRI

Post-translational modifications for BCKDHA Gene

  • Ubiquitination at posLast=224224 and posLast=311311
  • Modification sites at PhosphoSitePlus

Other Protein References for BCKDHA Gene

Domains & Families for BCKDHA Gene

Gene Families for BCKDHA Gene

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

Protein Domains for BCKDHA Gene

Graphical View of Domain Structure for InterPro Entry

P12694

UniProtKB/Swiss-Prot:

ODBA_HUMAN :
  • Belongs to the BCKDHA family.
Family:
  • Belongs to the BCKDHA family.
genes like me logo Genes that share domains with BCKDHA: view

Function for BCKDHA Gene

Molecular function for BCKDHA Gene

GENATLAS Biochemistry:
branched chain keto acid dehydrogenase E1,alpha 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 BCKDHA Gene

Phenotypes From GWAS Catalog for BCKDHA Gene

Gene Ontology (GO) - Molecular Function for BCKDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003826 alpha-ketoacid dehydrogenase activity IDA 7883996
GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA --
GO:0005515 protein binding IPI 12902323
GO:0016491 oxidoreductase activity IEA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA --
genes like me logo Genes that share ontologies with BCKDHA: view
genes like me logo Genes that share phenotypes with BCKDHA: view

Human Phenotype Ontology for BCKDHA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for BCKDHA Gene

miRTarBase miRNAs that target BCKDHA

Clone Products

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

Localization for BCKDHA Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCKDHA 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 BCKDHA gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
peroxisome 2
nucleus 2
lysosome 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BCKDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 11839747
GO:0005759 mitochondrial matrix TAS --
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex IDA 7883996
genes like me logo Genes that share ontologies with BCKDHA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCKDHA Gene

Pathways & Interactions for BCKDHA Gene

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

SIGNOR curated interactions for BCKDHA Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for BCKDHA Gene

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

Drugs & Compounds for BCKDHA Gene

(6) Drugs for BCKDHA Gene - From: HMDB

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

(41) Additional Compounds for BCKDHA 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 BCKDHA: view

Transcripts for BCKDHA Gene

Unigene Clusters for BCKDHA Gene

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

Clone Products

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

No ASD Table

Relevant External Links for BCKDHA Gene

GeneLoc Exon Structure for
BCKDHA
ECgene alternative splicing isoforms for
BCKDHA

Expression for BCKDHA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCKDHA Gene

This gene is overexpressed in Salivary gland (8.8) and Stomach (7.2).

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



Protein tissue co-expression partners for BCKDHA Gene

NURSA nuclear receptor signaling pathways regulating expression of BCKDHA Gene:

BCKDHA

SOURCE GeneReport for Unigene cluster for BCKDHA Gene:

Hs.433307

Evidence on tissue expression from TISSUES for BCKDHA Gene

  • Liver(4.5)
  • Lung(4.5)
  • Bone marrow(4.3)
  • Nervous system(4.3)
  • Muscle(2.9)
  • Blood(2.8)
  • Kidney(2.4)
  • Eye(2.2)
  • Heart(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
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 BCKDHA: view

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

Orthologs for BCKDHA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCKDHA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCKDHA 33 34
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia BCKDHA 33
  • 88.84 (n)
-- 34
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia BCKDHA 33 34
  • 88.81 (n)
rat
(Rattus norvegicus)
Mammalia Bckdha 33
  • 87.42 (n)
mouse
(Mus musculus)
Mammalia Bckdha 33 16 34
  • 87.19 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 81 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1886 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33155 33
zebrafish
(Danio rerio)
Actinopterygii bckdha 33 34
  • 72.44 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6353 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003136 33
  • 63.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8199 35 33 34
  • 61.88 (n)
worm
(Caenorhabditis elegans)
Secernentea Y39E4A.3 35 33 34
  • 60.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDA1 34
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G09300 33
  • 52.25 (n)
soybean
(Glycine max)
eudicotyledons Gma.3429 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12244 33
rice
(Oryza sativa)
Liliopsida Os12g0183100 33
  • 54.28 (n)
Os.17909 33
corn
(Zea mays)
Liliopsida Zm.9991 33
bread mold
(Neurospora crassa)
Ascomycetes NCU09864 33
  • 57.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5820 34
  • 51 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3990 33
Species where no ortholog for BCKDHA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for BCKDHA Gene

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

Paralogs for BCKDHA Gene

Paralogs for BCKDHA Gene

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

Variants for BCKDHA Gene

Sequence variations from dbSNP and Humsavar for BCKDHA Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1032350217 uncertain-significance, Maple syrup urine disease 41,422,778(+) C/T intron_variant
rs10404506 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Maple syrup urine disease 41,419,289(+) C/T coding_sequence_variant, synonymous_variant
rs10421626 likely-benign, Maple syrup urine disease 41,424,917(+) A/G 3_prime_UTR_variant
rs1057519059 pathogenic, Maple syrup urine disease 41,414,072(+) C/AA coding_sequence_variant, frameshift
rs114716391 uncertain-significance, likely-benign, Maple syrup urine disease, not specified 41,422,165(+) G/A/T coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv3644379 CNV loss 21293372
nsv953578 CNV deletion 24416366

Variation tolerance for BCKDHA Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCKDHA Gene

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

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

Disorders for BCKDHA Gene

MalaCards: The human disease database

(7) MalaCards diseases for BCKDHA Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
maple syrup urine disease
  • msud
intermediate maple syrup urine disease
  • intermediate bckd deficiency
urethral syndrome
  • urethral disease
pyuria
  • pus cells in urine
acute cystitis
  • urinary tract infection
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ODBA_HUMAN
  • Maple syrup urine disease 1A (MSUD1A) [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:1867199, ECO:0000269 PubMed:1885764, ECO:0000269 PubMed:2060625, ECO:0000269 PubMed:21844576, ECO:0000269 PubMed:2241958, ECO:0000269 PubMed:2703538, ECO:0000269 PubMed:7883996, ECO:0000269 PubMed:8037208, ECO:0000269 PubMed:8161368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BCKDHA

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

No data available for Genatlas for BCKDHA Gene

Publications for BCKDHA Gene

  1. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. (PMID: 8037208) Chuang JL … Chuang DT (American journal of human genetics 1994) 3 4 22 58
  2. Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene. (PMID: 21844576) Park HD … Lee YW (Annals of clinical and laboratory science 2011) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities. (PMID: 20136525) Carleton SM … Phillips CL (Genetic testing and molecular biomarkers 2010) 3 44 58
  5. Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. (PMID: 19456321) Quental S … Prata MJ (Annals of human genetics 2009) 3 22 58

Products for BCKDHA Gene

Sources for BCKDHA Gene

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