BCKDHA Gene
protein-coding GIFtS: 61
GCID: GC19P041903
|
|
branched chain keto acid dehydrogenase E1, alpha polypeptide(Previous names: branched chain keto acid dehydrogenase E1, alpha polypeptide...)
(Previous symbol: OVD1A)
| |
Aliases
for BCKDHA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide1 2 | | BCKDH E1-Alpha2 3 | | 2-Oxoisovalerate Dehydrogenase (Lipoamide)1 2 | | EC 1.2.4.43 8 | | MSU1 2 | | MSUD12 5 | | OVD1A1 2 | | Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide (Maple Syrup UrineDisease)1 | | Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Alpha Chain2 3 | | 2-Oxoisovalerate Dehydrogenase Subunit Alpha, Mitochondrial2 | | BCKDE1A2 3 | | |
Export aliases for BCKDHA gene to outside databasesPrevious GC identifers: GC19P042543 GC19P042295 GC19P046579 GC19P046595 GC19P038335 |
Summaries
for BCKDHA gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BCKDHA:
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex thatcatalyzes 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-ketoacid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This geneencodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urinedisease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.(provided byRefSeq, Sep 2009)
UniProtKB/Swiss-Prot: ODBA_HUMAN, P12694Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids toacyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto aciddecarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)
Gene Wiki entry for BCKDHA
|
Genomic Views
for BCKDHA gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BCKDHA gene promoter:
NF-1 USF1 AP-1 GR-beta ATF-2 USF2 USF-1:USF-2 E47 USF-1 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for BCKDHA
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCKDHA |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.1-q13.2 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.1-q13.2BCKDHA Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P041903: view genomic region
(about GC identifiers)
Start:
|
41,903,365 bp from pter |
End:
|
41,930,910 bp from pter |
Size:
|
27,546 bases |
Orientation:
|
plus strand |
|
Proteins
for BCKDHA gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ODBA_HUMAN, P12694 (See
protein sequence)Recommended Name: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial precursor Size: 445 amino acids; 50471 Da
Cofactor: Thiamine pyrophosphate
Subunit: Heterotetramer of alpha and beta chains
Subcellular location: Mitochondrion matrix
Miscellaneous: Bound potassium ions stabilize the protein structure
Sequence caution: Sequence=AAB59549.1; Type=Erroneous initiation;
6/24 PDB 3D structures from  and Proteopedia  for BCKDHA (see all 24):1DTW (3D)
1OLS (3D)
1OLU (3D)
1OLX (3D)
1U5B (3D)
1V11 (3D)
Secondary accessions: Q16034 Q16472Explore the universe of human proteins at neXtProt for BCKDHA: NX_P12694
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P12694
4/9 DME Specific Peptides for BCKDHA (P12694) (see all 9)
BCKDHA Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000700.1 NP_001158255.1
ENSEMBL proteins: ENSP00000269980 ENSP00000440345 ENSP00000416000 ENSP00000445809 ENSP00000445727 Reactome Protein details: P12694
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
BCKDHA for ontologies About GeneDecksing
BCKDHA Antibody Products:
Assay Products for BCKDHA: |
Protein
Domains /
Families
for BCKDHA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BCKDHA for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P12694ProtoNet protein and cluster: P12694 1 Blocks protein family: IPB001017 Dehydrogenase
UniProtKB/Swiss-Prot: ODBA_HUMAN, P12694Similarity: Belongs to the BCKDHA family |
Function
for BCKDHA gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ODBA_HUMAN, P12694Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids toacyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto aciddecarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)Catalytic activity: 3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine= [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] S-(2-methylpropanoyl)dihydrolipoyllysine + CO(2) Genatlas biochemistry entry for BCKDHA:branched chain keto acid dehydrogenase E1,alpha polypeptide,inner mitochondrial membrane
Enzyme Number (IUBMB): EC 1.2.4.41 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BCKDHA (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BCKDHA (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): BCKDHA (NM_000709) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BCKDHA | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCKDHA |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCKDHA |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table | 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 | 15576032 | | GO:0016624 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor |
-- | -- | | GO:0016831 | carboxy-lyase activity |
TAS | 11839747 |
BCKDHA for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for BCKDHA:
|
Pathways & Interactions
for BCKDHA gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Branched-chain amino acid catabolism | | | 2 | 2-oxoisovalerate decarboxylation to isobutanoyl-CoA | | | 3 | Metabolism | | | 4 | Metabolism of amino acids and derivatives | | | 5 | Methionine metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5  BioSystems Pathways for BCKDHA
3 
Reactome Pathways for BCKDHA
2 
Kegg Pathways (Kegg details for BCKDHA):
BCKDHA for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BCKDHA
STRING Interaction
Network Preview (showing 5 interactants - click image to see 16)
5/20 Interacting proteins for BCKDHA (P126941, 2, 3 ENSP000002699804) via UniProtKB, MINT, STRING, and/or I2D (see all 20)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007584 | response to nutrient |
-- | -- | | GO:0009083 | branched-chain amino acid catabolic process |
TAS | -- | | GO:0034641 | cellular nitrogen compound metabolic process |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- | | GO:0051384 | response to glucocorticoid stimulus |
-- | -- |
BCKDHA for ontologies About GeneDecksing
|
Drugs & Compounds
for BCKDHA gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BCKDHA
10/47 HMDB Compounds for BCKDHA (see all 47) About this table
Search CenterWatch for drugs/clinical trials and news about BCKDHA / ODBA
|
Transcripts
for BCKDHA gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BCKDHA gene (2 alternative transcripts): NM_000709.3 NM_001164783.1 Unigene Cluster for BCKDHA: Branched chain keto acid dehydrogenase E1, alpha polypeptide Hs.433307 [show with all ESTs]Unigene Representative Sequence: BF2061128 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000269980(uc002oqp.2 uc002oqr.3 uc002oqq.3) ENST00000538423
ENST00000542943 ENST00000457836(uc010xvz.2) ENST00000541315 ENST00000535632
ENST00000545787 ENST00000544905
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BCKDHA (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BCKDHA (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): BCKDHA (NM_000709) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BCKDHA | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCKDHA |
Additional cDNA sequence: AB209828.1 AK298188.1 AK313300.1 BC007878.2 BC008933.2 BC023983.1 J04474.1 M22221.1 Z14093.1 19 DOTS entries: DT.101978383 DT.100803741 DT.100812998 DT.448443 DT.100813014 DT.100008928 DT.92472108 DT.100813002 DT.121460964 DT.121460916 DT.95267358 DT.100806926 DT.100813013 DT.100813018 DT.121461061 DT.121461111 DT.95267362 DT.100812999 DT.100813017 24/705 AceView cDNA sequences (see all 705): BE785727 BM702667 BQ897759 BM920760 BM680818 CR610273 CR601175 BI517348 BM665054 CR592078 CR592674 BX113982 BQ018849 BM759293 BX336786 CR618519 BM703059 BU845033 CA417344 BM675470 AA455743 CA427550 BM703251 F02110
GeneLoc Exon Structure
|
Expression
for BCKDHA gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BCKDHA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAGGTCAGC
About this image
See BCKDHA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BCKDHA
SOURCE GeneReport for Unigene cluster: Hs.433307
SABiosciences Expression via Pathway-Focused PCR Arrays including BCKDHA:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BCKDHA
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BCKDHA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BCKDHA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BCKDHA | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCKDHA |
Orthologs
for BCKDHA gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for BCKDHA gene from 8/36 species (see all 36) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Bckdha1 , 5 |
branched chain ketoacid dehydrogenase E1, alpha polypeptide1, 5 |
87.19(n)1
92.58(a)1 |
|
7 (13.94 cM)5
120391 NM_007533.51 NP_031559.31
256298525 |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
87(a) |
1 → many |
LGf(3967123-3975630) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.331552 |
Xenopus laevis transcribed sequence with moderate similarity more |
77.51(n) |
|
CA981455.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
bckdha1 |
branched chain keto acid dehydrogenase E1, alpha polypeptide |
72.9(n)
80.61(a) |
|
554124 NM_001024419.1 NP_001019590.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG81991 , 3 |
3-methyl-2-oxobutanoate dehydrogenase
(lipoamide)3
CG81991 |
60(a)3
62.05(n)1
60.45(a)1 |
|
85D243
411491 NM_141648.21 NP_649905.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
Y39E4A.31 , 3 |
Transketolase3
Protein Y39E4A.31 |
56(a)3
61.07(n)1
63.52(a)1 |
|
III(13039506-13043104)3
1767161 NM_001038287.11 NP_001033376.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT5G093001 |
2-oxoisovalerate dehydrogenase E1 component, alpha more |
52.25(n)
47(a) |
|
830789 NM_120966.3 NP_568209.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.179092 |
Oryza sativa branched chain alpha-keto acid dehydrogenase more |
73.35(n) |
|
AK060732.1 |
ENSEMBL Gene Tree for BCKDHA (if available)
TreeFam Gene Tree for BCKDHA (if available) |
Paralogs
for BCKDHA gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BCKDHA gene
- PDHA22 PDHA12 ENSG000002557302
14 SIMAP similar genes for BCKDHA using alignment to 6 protein entries: ODBA_HUMAN (see all proteins):DKFZp313C0640 DNAPTP3 FLJ20555 TMEM91 CCT3 C14orf2
FAM138A FAM138B FAM138C FAM138F OK/SW-cl.41 KIAA1651
FAM138D C14orf178
BCKDHA for paralogs About GeneDecksing
|
Genomic Variants
for BCKDHA gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BCKDHA (41903365 - 41930910 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BCKDHA: --
Human Gene Mutation Database (HGMD): BCKDHA
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for BCKDHA gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BCKDHA for disorders About GeneDecksing
OMIM gene information: 608348
OMIM disorders: 248600
UniProtKB/Swiss-Prot: ODBA_HUMAN, P12694
Defects in BCKDHA are a cause of maple syrup urine disease type IA (MSUD1A) [MIM:248600]. MSUD is an autosomalrecessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to theurine
13  diseases for BCKDHA: About MalaCardsmaple syrup urine disease maple syrup urine disease, type ia pyuria bacteriuria
urethral syndrome arthropathy synovitis gout
pneumonia arthritis tuberculosis malaria
mycobacterium tuberculosis
5 diseases from the University of Copenhagen DISEASES database for BCKDHA:Hyperuricemia Arthritis Bacteriuria Urethral syndrome
Arthropathy 1 Novoseek disease relationship for BCKDHA gene About this table
GeneTests: BCKDHA
Maple Syrup Urine Disease
Human Genome Epidemiology (HuGE) Navigator: BCKDHA (2 documents)
Export disorders for BCKDHA gene to outside databases
|
Publications
for BCKDHA gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BCKDHA gene, integrated from 9 sources (see all 51):
(articles sorted by number of sources associating them with BCKDHA) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (PubMed id 8037208)1, 2, 9 Chuang J.L.... Chuang D.T. (1994)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. (PubMed id 10745006)1, 2 Aevarsson A....Hol W.G.J. (2000)
- Molecular and biochemical basis of intermediate maple syrup urine disease: occurrence of homozygous G245R and F364C mutations at the E1- alpha locus of Hispanic-Mexican patients. (PubMed id 7883996)1, 2 Chuang J.L....Chuang D.T. (1995)
- Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N- terminal proline in the rat sequence. (PubMed id 7918575)1, 2 Wynn R.M.... Chuang D.T. (1994)
- Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex. (PubMed id 8161368)1, 2 Nobukuni Y.... Matsuda I. (1993)
- Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha- ketoacid dehydrogenase complex. (PubMed id 1420356)1, 2 McKean M.C.... Danner D.J. (1992)
- Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched- chain alpha-keto acid dehydrogenase complex. (PubMed id 1885764)1, 2 Fisher C.R....Chuang D.T. (1991)
- Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex. (PubMed id 2060625)1, 2 Dariush N.... Chuang D.T. (1991)
- Occurrence of a Tyr393-->Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. (PubMed id 1867199)1, 2 Fisher C.R.... Cox R.P. (1991)
|
External Searches for BCKDHA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BCKDHA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BCKDHA gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BCKDHA gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BCKDHA | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BCKDHA |
|
| | |
About This Section
| Patent Information for BCKDHA gene:
Search GeneIP for patents involving BCKDHA
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BCKDHA gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for BCKDHA | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BCKDHA | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BCKDHA | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BCKDHA | | OriGene 3'-UTR Clone for BCKDHA | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BCKDHA | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BCKDHA | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for BCKDHA | | OriGene Custom Protein Services for BCKDHA | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BCKDHA | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BCKDHA | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCKDHA | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BCKDHA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BCKDHA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BCKDHA |
| |
 |  |  |  | |
| | | | Search Tocris compounds for BCKDHA |
| |  |  |  |  | | | | | | Recombinant Protein for BCKDHA |
|
 |
 |
 |
 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCKDHA |
|  |  |  | | | | Search ThermoFisher Antibodies for BCKDHA |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCKDHA |
|
|
|
|
