BCKDHA Antibody, FITC conjugated

Code CSB-PA002605LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) BCKDHA Polyclonal antibody
Uniprot No.
Target Names
BCKDHA
Alternative Names
Branched chain alpha keto acid dehydrogenase E1 component alpha polypeptide antibody; FLJ45695 antibody; OVD1A antibody; 2 oxoisovalerate dehydrogenase (lipoamide) antibody; 2 oxoisovalerate dehydrogenase subunit alpha, mitochondrial antibody; 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial antibody; BCKDE1A antibody; BCKDH E1 alpha antibody; BCKDH E1-alpha antibody; BCKDHA antibody; Branched chain alpha keto acid dehydrogenase E1 component alpha chain antibody; Branched chain keto acid dehydrogenase E1 alpha polypeptide antibody; Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease) antibody; Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain antibody; MSU antibody; MSUD1 antibody; ODBA_HUMAN antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial protein (268-407AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
FITC
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

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).
Gene References into Functions
  1. pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease PMID: 29673582
  2. Data suggest that the following genetic modifications are involved in patients with maple syrup urine disease in Iran: (1) mutation in BCKDHA (branched chain keto acid dehydrogenase E1 alpha); (2) mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta); (3) mutation in DBT (dihydrolipoamide branched chain transacylase E2; one patient). PMID: 29306928
  3. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants PMID: 26830710
  4. Five novel mutations in BCKDHA were identified in MSUD patients. PMID: 26453840
  5. The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved. PMID: 24268812
  6. Targeted parallel sequencing revealed novel mutations in the gene BCKDHA for prenatal testing of maple syrup urine disease. PMID: 24603436
  7. Data from infant/her heterozygous parents (first cousins) suggest homozygous mutation (S144I) in BCKDHA can result in maple syrup urine disease (IA); molecular modeling suggests this missense mutation in exon 4 affects protein stability. [CASE STUDY] PMID: 23729548
  8. Case Report: functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene in maple syrup urine disease. PMID: 20431954
  9. A list of nine primary candidate genes for T2D and five for obesity were identified in this paper. Two genes, LPL and BCKDHA, were common to these two sets. PMID: 16757574
  10. BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population. PMID: 22593002
  11. autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome. PMID: 22956686
  12. identified 4 novel mutations of the BCKDHA gene in 3 Korean newborns; to the best of knowledge, this is the first report of maple syrup urine disease confirmed by genetic analysis in Korea PMID: 21844576
  13. Case Report: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. PMID: 19085071
  14. five mutations, three of them novel, responsible for maple syrup urine disease PMID: 19715473
  15. the conformational stability underlying the folding of this lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase PMID: 15322287
  16. in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes PMID: 17922217
  17. 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time. PMID: 18378174
  18. A founder mutation in the BCKDHA is responsible for the high incidence of the maple syrup urine disease among Portuguese Gypsies. PMID: 19456321
  19. In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene. PMID: 19480318

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Involvement in disease
Maple syrup urine disease 1A (MSUD1A)
Subcellular Location
Mitochondrion matrix.
Protein Families
BCKDHA family
Database Links

HGNC: 986

OMIM: 248600

KEGG: hsa:593

STRING: 9606.ENSP00000269980

UniGene: Hs.433307

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