BCKDHB (NM_183050) Human Recombinant Protein
Recombinant protein of human branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 1
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|Description||Recombinant protein of human branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 1|
|Expression cDNA Clone or AA Sequence||Recombinant protein was produced with TrueORF clone, RC208059. Click on the TrueORF clone link to view cDNA and protein sequences.|
|Predicted MW||37.8 kDa|
|Concentration||>50 ug/mL as determined by microplate BCA method|
|Purity||> 80% as determined by SDS-PAGE and Coomassie blue staining|
|Buffer||25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol. Store at –80C. Avoid repeated freeze-thaw cycles. Stable for 3 months from receipt of products under proper storage and handling conditions.|
|Synonyms||BCKDE1B; BCKDH E1-beta; E1B|
|Summary||This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene 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 multiple transcript variants. [provided by RefSeq, Jan 2016].|
|Protein Pathways||Valine, leucine and isoleucine degradation, Metabolic pathways|