Recombinant Full Length Human BCKDHA Protein, GST-tagged

• Cat.No.: BCKDHA-1630HF
• Product Overview: Human BCKDHA full-length ORF ( AAH07878.1, 1 a.a. - 445 a.a.) recombinant protein with GST-tag at N-terminal.

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.
• Source: In Vitro Cell Free System
• Species: Human
• Tag: GST
• Form: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
• Molecular Mass: 74.69 kDa
• Protein Length: 445 amino acids
• AA Sequence: MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL RKQQESLARH LQTYGEHYPL DHFDK
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

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 alpha, mitochondrial; maple syrup urine disease; MSU; BCKDH E1-alpha; 2-oxoisovalerate dehydrogenase (lipoamide); branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; MSUD1; OVD1A; BCKDE1A; FLJ45695
• Gene ID: 593
• mRNA Refseq: NM_000709
• Protein Refseq: NP_000700
• MIM: 608348
• UniProt ID: P12694