Recombinant Human BCKDHA, His-tagged

• Cat.No.: BCKDHA-27442TH
• Product Overview: Recombinant full length mature Human BCKDHA with N terminal His tag; predicted MWt 47.8kDa; 421 amino acids inclusive of tag

Specification

• Description: 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.
• Protein length: 400 amino acids
• Conjugation: HIS
• Molecular Weight: 47.800kDa inclusive of tags
• Source: E. coli
• Form: Liquid
• Purity: by SDS-PAGE
• Storage buffer: Preservative: NoneConstituents: 30% Glycerol, 5mM DTT, 200mM Sodium chloride, 20mM Tris HCl, pH 8
• Storage: Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
• Sequences of amino acids: MGSSHHHHHH SSGLVPRGSH MSSLDDKPQF PGASAEFIDK LEFIQPNVIS GIPIYRVMDR QGQIINPSED PHLPKEKVLK LYKSMTLLNTMDRILYESQR QGRISFYMTN YGEEGTHVGS AAALDNTDLV FGQYREAGVL MYRDYPLELF MAQCYGNISD LGKGRQMPVH YGCKERHFVTISSPLATQIP QAVGAAYAAK RANANRVVIC YFGEGAASEG DAHAGFNFAA TLECPIIFFC RNNGYAISTP TSEQYRGDGI AARGPGYGIMSIRVDGNDVF AVYNATKEAR RRAVAENQPF LIEAMTYRIG HHSTSDDSSA YRSVDEVNYW DKQDHPISRL RHYLLSQGWW DEEQEKAWRKQSRRKVMEAF EQAERKPKPN PNLLFSDVYQ EMPAQLRKQQ ESLARHLQTY GEHYPLDHFD K
• Sequence Similarities: Belongs to the BCKDHA family.

Gene Information

• Gene Name: BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide [ Homo sapiens ]
• Official Symbol: BCKDHA
• Synonyms: BCKDHA; branched chain keto acid dehydrogenase E1, alpha polypeptide; 2 oxoisovalerate dehydrogenase (lipoamide) , branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease) , OVD1A; 2-oxoisovalerate dehydrogenase subunit al
• Gene ID: 593
• mRNA Refseq: NM_000709
• Protein Refseq: NP_000700
• MIM: 608348
• Uniprot ID: P12694
• Chromosome Location: 19q13.1-q13.2
• Pathway: 2-oxobutanoate degradation I, conserved biosystem; Branched-chain amino acid catabolism, organism-specific biosystem; Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystem; Leucine degradation, leucine =>
• Function: 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity; alpha-ketoacid dehydrogenase activity; carboxy-lyase activity; metal ion binding; protein binding