DLD active protein

DLD, human recombinant

Cat. Num. AAA844739

• Gene Names: DLD; E3; LAD; DLDD; DLDH; GCSL; PHE3
• Applications: SDS-Page
• Purity: >=95%
• Synonyms: DLD; human recombinant; Dihydrolipoyl dehydrogenase; mitochondrial; DLDH; E3; GCSL; LAD; PHE3; DLD active protein

• Host: E Coli
• Purity/Purification: >=95%
• Form/Format: 1 mg/ml solution in 20 mM Tris-HCl buffer (pH 8.0) containing 10% glycerol, 1 mM DTT and 0.1 M NaCl; Appearance: Liquid
• Concentration: 1 mg/ml (varies by lot)
• Sequence: MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSMADQ PIDADVTVIG SGPGGYVAAI KAAQLGFKTV CIEKNETLGG TCLNVGCIPS KALLNNSHYY HMAHGKDFAS RGIEMSEVRL NLDKMMEQKS TAVKALTGGI AHLFKQNKVV HVNGYGKITG KNQVTATKAD GGTQVIDTKN ILIATGSEVT PFPGITIDED TIVSSTGALS LKKVPEKMVV IGAGVIGVEL GSVWQRLGAD VTAVEFLGHV GGVGIDMEIS KNFQRILQKQ GFKFKLNTKV TGATKKSDGK IDVSIEAASG GKAEVITCDV LLVCIGRRPF TKNLGLEELG IELDPRGRIP VNTRFQTKIP NIYAIGDVVA GPMLAHKAED EGIICVEGMA GGAVHIDYNC VPSVIYTHPE VAWVGKSEEQ LKEEGIEYKV GKFPFAANSR AKTNADTDGM VKILGQKSTD RVLGAHILGP GAGEMVNEAA LALEYGASCE DIARVCHAHP TLSEAFREAN LAASFGKSIN F
• Sequence Length: 509

• Applicable Applications for DLD active protein: SDS-PAGE
• Biological Activity: Specific activity: > 50 units/ml. One unit will reduce 1.0 umole of DL-dihydrolipoamide per minute at pH 7.4 at 25 degree C.
• Results: Specific activity: > 50 units/ml
• Unit Definition: One unit will reduce 1.0 umole of DL-dihydrolipoamide per minute at pH 7.4 at 25 degree C.
• Handling: Centrifuge the vial prior to opening.
• Preparation and Storage: At -20 degree C; Shelf Life: 12 months

Testing Data

Related Product Information for DLD active protein

Background: DLD (Dihydrolipoamide dehydrogenase), also known as GCSL (glycine cleavage system L protein), is a component of the glycine cleavage system as well as of the alpha ketoacid dehydrogenase complexes. DLD is a flavin-dependent oxidoreductase and functions as a component of the alpha-keto acid dehydrogenase, the pyruvate dehydrogenase, the alpha-ketoglutarate dehydrogenase, the branched-chain alpha-keto acid dehydrogenase and as the L protein in the mitochondrial glycine cleavage system. Mutations in DLD protein can result in MSuD (maple syrup urine disease) and congenital infantile lactic acidosis. Recombinant human DLD protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.

Product Categories/Family for DLD active protein

Proteins and Enzymes; Proteins and Enzymes (A-Z)

NCBI and Uniprot Product Information

• NCBI GI #: 91199540
• NCBI GeneID: 1738
• NCBI Accession #: NP_000099.2
• NCBI GenBank Nucleotide #: NM_000108.4
• UniProt Accession #: P09622; Q14131; Q14167; Q59EV8; Q8WTS4; B2R5X0; B4DHG0; B4DT69
• Molecular Weight: 54.4 kDa (511 aa, 36-509 aa + His Tag)
• NCBI Official Full Name: dihydrolipoyl dehydrogenase, mitochondrial isoform 1
• NCBI Official Synonym Full Names: dihydrolipoamide dehydrogenase
• NCBI Official Symbol: DLD
• NCBI Official Synonym Symbols: E3; LAD; DLDD; DLDH; GCSL; PHE3
• NCBI Protein Information: dihydrolipoyl dehydrogenase, mitochondrial
• UniProt Protein Name: Dihydrolipoyl dehydrogenase, mitochondrial
• Protein Family: Delta-like protein
• UniProt Gene Name: DLD
• UniProt Synonym Gene Names: GCSL; LAD; PHE3
• UniProt Entry Name: DLDH_HUMAN

NCBI Description

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Uniprot Description

DLD: a multi-functional mitochondrial enzyme. An enzymatic component of the mitochondrial glycine cleavage system, the pyruvate dehydrogenase complex (PDHC), the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Is the E3 component of the PDHC that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO2. The E3 component has dihydrolipoamide dehydrogenase activity. The PDHC contains 20-30 copies of pyruvate decarboxylase tetramers (2 alpha:2 beta)(E1), 60 copies of dihydrolipoamide acetyltransferase (E2), six homodimers of dihydrolipoamide dehydrogenase (E3), plus E3 binding proteins. Defects in DLD are a cause of maple syrup urine disease (MSUD), characterized by mental and physical retardation, feeding problems and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine, resulting from a block in oxidative decarboxylation. Differentially expressed in the Wernicke's Area from patients with schizophrenia. Inhibited by 5-methoxyindole-2-carboxylic acid (MICA).

Protein type: Carbohydrate Metabolism - pyruvate; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Amino Acid Metabolism - glycine, serine and threonine; Oxidoreductase; Carbohydrate Metabolism - citrate (TCA) cycle; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Mitochondrial; EC 1.8.1.4

Chromosomal Location of Human Ortholog: 7q31-q32

Cellular Component: nucleoplasm; mitochondrion; mitochondrial matrix; acrosomal matrix; cilium

Molecular Function: mercury (II) reductase activity; FAD binding; mercury ion binding; dihydrolipoyl dehydrogenase activity; NADP binding

Biological Process: cellular metabolic process; regulation of membrane potential; mitochondrial electron transport, NADH to ubiquinone; tricarboxylic acid cycle; cell redox homeostasis; detoxification of mercury ion; lysine catabolic process; gastrulation; regulation of acetyl-CoA biosynthetic process from pyruvate; branched chain family amino acid catabolic process; proteolysis; pyruvate metabolic process; sperm capacitation

Disease: Dihydrolipoamide Dehydrogenase Deficiency