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Human DLD Recombinant Protein (RPPB1578)

SKU:
RPPB1578
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
P09622
Research Area:
Enzymes
€309
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Description

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Product Name:Human DLD Recombinant Protein
Product Code:RPPB1578
Size:25µg
Species:Human
Target:DLD
Synonyms:EC 1.8.1.4, DLD, DLDH, GCSL, PHE3, Dihydrolipoyl dehydrogenase mitochondrial, Dihydrolipoamide dehydrogenase, Glycine cleavage system L protein, LAD, E3.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered clear colorless solution.
Formulation:The DLD solution contains 20mM Tris-HCl pH-8, 1mM DTT, 0.1M NaCl and 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 95% as determined by SDS-PAGE.
Amino Acid 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

DLD is an L protein of the mitochondrial glycine cleavage system which is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. DLD mutations were found in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency.

DLD Human Recombinant produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 511 amino acids (36-509 a.a.) and having a molecular mass of 54.4 kDa. The DLD is fused to a 37 amino acid His Tag at N-terminus and purified by proprietary chromatographic techniques.

UniProt Protein Function: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).
UniProt Protein Details:

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

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; cell redox homeostasis; tricarboxylic acid cycle; detoxification of mercury ion; lysine catabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; gastrulation; branched chain family amino acid catabolic process; proteolysis; pyruvate metabolic process; sperm capacitation

Disease: Dihydrolipoamide Dehydrogenase Deficiency

NCBI Summary: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 Code:P09622
NCBI GenInfo Identifier:269849557
NCBI Gene ID:1738
NCBI Accession:P09622.2
UniProt Secondary Accession:P09622,Q14131, Q14167, Q59EV8, Q8WTS4, B2R5X0, B4DHG0 B4DT69,
UniProt Related Accession:P09622
Molecular Weight:509
NCBI Full Name:Dihydrolipoyl dehydrogenase, mitochondrial
NCBI 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; diaphorase; lipoamide reductase; lipoamide dehydrogenase; glycine cleavage system L protein; glycine cleavage system protein L; E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
UniProt Protein Name:Dihydrolipoyl dehydrogenase, mitochondrial
UniProt Synonym Protein Names:Dihydrolipoamide dehydrogenase; Glycine cleavage system L protein
Protein Family:Delta-like protein
UniProt Gene Name:DLD��
UniProt Entry Name:DLDH_HUMAN

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