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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. Additionally we are shipping BCKDHA Antibodies (23) and BCKDHA Proteins (11) and many more products for this protein.
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we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT (show MUT ELISA Kits), p.Tyr206Cys in PCCB (show PCCB ELISA Kits), p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB (show BCKDHB ELISA Kits) gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants
Five novel mutations in BCKDHA were identified in MSUD patients.
The novel DBT (show DBT ELISA Kits) 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.
Targeted parallel sequencing revealed novel mutations in the gene BCKDHA for prenatal testing of maple syrup urine disease.
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]
Case Report: functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene in maple syrup urine disease.
A list of nine primary candidate genes for T2D and five for obesity were identified in this paper. Two genes, LPL (show LCP1 ELISA Kits) and BCKDHA, were common to these two sets.
BCKDHA and BCKDHB (show BCKDHB ELISA Kits) mutations might be primarily responsible for maple syrup urine disease in the Indian population.
autism presenting with intellectual disability and epilepsy caused by BCKDK (show BCKDK ELISA Kits) mutations represents a potentially treatable syndrome.
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
analysis of NCF2 (show NCF2 ELISA Kits), BCKDHB (show BCKDHB ELISA Kits) and BCKDHA in pig
Disruption of the BDK (show KNG1 ELISA Kits) gene establishes that regulation of BCKDH by phosphorylation is critically important for the regulation of oxidative disposal of branched-chain amino acids.
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.
branched chain keto acid dehydrogenase E1, alpha polypeptide
, 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
, 2-oxoisovalerate dehydrogenase alpha subunit (branched-chain alpha-keto acid dehydrogenase E1 component alpha chain) (BCKDH E1-alpha) (BCKDE1A)
, 2-oxoisovalerate dehydrogenase (lipoamide)
, BCKDH E1-alpha
, branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
, branched chain keto acid dehydrogenase E1 alpha polypeptide
, branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)
, BCKAD E1[a]
, branched chain alpha-ketoacid dehydrogenase subunit E1 alpha
, branched chain keto acid dehydrogenase subunit E1, alpha polypeptide