Recombinant Full Length Human BCKDHB Protein, GST-tagged

• Cat.No.: BCKDHB-1612HF
• Product Overview: Human BCKDHB full-length ORF ( AAH40139, 1 a.a. - 392 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• 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: 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: 68.86 kDa
• Protein Length: 392 amino acids
• AA Sequence: MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKRLLLSCIE DKNPCIFFEP KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY
• 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: 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