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Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. Additionally we are shipping BCKDHB Antibodies (29) and many more products for this protein.
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analysis of NCF2 (show NCF2 Proteins), BCKDHB and BCKDHA (show BCKDHA Proteins) in pig
we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT (show MUT Proteins), p.Tyr206Cys in PCCB (show PCCB Proteins), p.His194Arg, p.Val298Met in BCKDHA (show BCKDHA Proteins) and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants
Five novel mutations in BCKDHB were identified in MSUD patients.
we describe the presenting symptoms and clinical course of a Chinese boy with intermittent Intermittent maple syrup urine disease from BCKDHB gene mutation
Mutations in BCKDHB gene is associated with maple syrup urine disease.
BCKDHA (show BCKDHA Proteins) and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.
A key tyrosine residue in the E1b active site functions as a conformational switch to reduce the reactivity of the thiamine diphosphate cofactor through interactions with its thiazolium ring.
the two active sites in the E1b heterotetramer operate independently during the ThDP-dependent decarboxylation reaction
Reconstructed haplotype from BCKDHB variants was associated with premature ovarian failure.
in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA (show BCKDHA Proteins) gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT (show DBT Proteins) genes
30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA (show BCKDHA Proteins), 5 in BCKDHB and 6 in DBT (show DBT Proteins)); 7 of are described for the first time.
Disruption of the BDK (show KNG1 Proteins) gene establishes that regulation of BCKDH by phosphorylation is critically important for the regulation of oxidative disposal of branched-chain amino acids.
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform.
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
, branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
, mitochondrial branched-chain alpha-keto acid dehydrogenase E1-beta subunit
, branched chain keto acid dehydrogenase E1, beta polypeptide
, branched chain keto acid dehydrogenase E1 beta polypeptide
, branched chain keto acid dehydrogenase E1 beta-like
, 2-oxoisovalerate dehydrogenase beta subunit
, BCKDH E1-beta
, branched chain keto acid dehydrogenase E1 beta
, branched-chain alpha-keto acid dehydrogenase E1 component beta chain
, E1b-beta subunit of the branched-chain complex
, branched chain alpha-ketoacid dehydrogenase E1-beta subunit