"BCKDHB" Related Products


Recombinant Human BCKDHB, GST-tagged

Cat.No.: BCKDHB-10173H
Product Overview: Recombinant Human BCKDHB protein, fused to GST-tag, was expressed in E.coli and purified by GSH-sepharose.
Description: 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.
Source: E.coli
Species: Human
Tag: GST
Protein length: 41-392a.a.
Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 100mM GSH and 1% Triton X-100,15%glycerol.
Gene Name: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide [ Homo sapiens ]
Official Symbol: BCKDHB
Synonyms: BCKDHB; branched chain keto acid dehydrogenase E1, beta polypeptide; 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; maple syrup urine disease; BCKDE1B; BCKDH E1-beta; 2-oxoisovalerate dehydrogenase beta subunit; E1b-beta subunit of the branched-chain complex; branched chain alpha-ketoacid dehydrogenase E1-beta subunit; branched-chain alpha-keto acid dehydrogenase E1 component beta chain; E1B; dJ279A18.1; FLJ17880;
Gene ID: 594
mRNA Refseq: NM_000056
Protein Refseq: NP_000047
MIM: 248611
UniProt ID: P21953
Chromosome Location: 6q14.1
Pathway: 2-oxobutanoate degradation I, organism-specific biosystem; 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 => acetoacetate + acetyl-CoA, conserved biosystem;
Function: 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity; alpha-ketoacid dehydrogenase activity; carboxy-lyase activity; protein binding; protein complex binding;

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