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Human DLAT Recombinant Protein (RPPB1577)

SKU:
RPPB1577
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
P10515
Research Area:
Enzymes
€309
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Description

system_update_altDatasheetsystem_update_altMSDS
Product Name:Human DLAT Recombinant Protein
Product Code:RPPB1577
Size:10µg
Species:Human
Target:DLAT
Synonyms:Dihydrolipoamide S-Acetyltransferase, PDC-E2, dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial, Pyruvate dehydrogenase complex component E2, 70 kDa mitochondrial autoantigen of primary biliary cirrhosis, DLAT, PBC, M2 antigen complex 70 kDa subunit, EC 2.3.1.12, EC 2.3.1.
Source:Sf9 Insect cells
Physical Appearance:Sterile Filtered colorless solution.
Formulation:DLAT (0.91mg/ml)�is supplied in 20mM HEPES buffer pH-8.0, 200mM NaCl and 20% glycerol.
Stability:Store DLAT�at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time.�Avoid multiple freeze-thaw cycles.
Purity:DLAT purity was found to be greater than 75% as determined by SDS-PAGE.

DLAT gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC is located in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, takes acetyl groups created by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies which are found in about 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In patients who suffer from this illness, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC ultimately leads to cirrhosis and liver failure. Mutations in DLAT are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.

DLAT is a full-length cDNA coding for the mature form of the human PDC-E2 protein having a molecular mass of 60,630 Dalton (pH 5.8). DLAT protein is fused to a hexa-histidine purification tag.

UniProt Protein Function:DLAT: the E2 component of the pyruvate dehydrogenase complex (PDHC) that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO2. Contains two lipoyl-binding domains. The PDHC plays a major role in controlling the balance between lipid and glucose oxidation depending on substrate availability. The activity of the PDHC is tightly regulated by phosphorylation of the E1 components by the PDHKs. The pyruvate dehydrogenase (PDH) holoenzyme is a multi-enzyme complex (PDHC) that contains 20-30 copies of pyruvate decarboxylase tetramers (2 alpha:2 beta)(E1), 60 copies of dihydrolipoamide acetyltransferase (E2), six homo-dimers of dihydrolipoamide dehydrogenase (E3), plus E3 binding proteins. PDHKs are recruited to the PDHC by binding to a lipoyl group covalently attached to K174 of the inner lipoyl domain of the E2 component.
UniProt Protein Details:

Protein type:Mitochondrial; EC 2.3.1.12; Transferase; Carbohydrate Metabolism - citrate (TCA) cycle; Carbohydrate Metabolism - pyruvate; Carbohydrate Metabolism - glycolysis and gluconeogenesis

Chromosomal Location of Human Ortholog: 11q23.1

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial pyruvate dehydrogenase complex

Molecular Function:dihydrolipoyllysine-residue acetyltransferase activity; protein binding

Biological Process: cellular metabolic process; tricarboxylic acid cycle; glucose metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; pyruvate metabolic process

Disease: Pyruvate Dehydrogenase E2 Deficiency

NCBI Summary:This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
UniProt Code:P10515
NCBI GenInfo Identifier:215274207
NCBI Gene ID:1737
NCBI Accession:P10515.3
UniProt Secondary Accession:P10515,Q16783, Q53EP3,
UniProt Related Accession:P10515
Molecular Weight:647
NCBI Full Name:Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
NCBI Synonym Full Names:dihydrolipoamide S-acetyltransferase
NCBI Official Symbol:DLAT��
NCBI Official Synonym Symbols:DLTA; PDCE2; PDC-E2��
NCBI Protein Information:dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial; PBC; M2 antigen complex 70 kDa subunit; pyruvate dehydrogenase complex component E2; E2 component of pyruvate dehydrogenase complex; 70 kDa mitochondrial autoantigen of primary biliary cirrhosis; dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial
UniProt Protein Name:Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
UniProt Synonym Protein Names:70 kDa mitochondrial autoantigen of primary biliary cirrhosis; PBC; Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; M2 antigen complex 70 kDa subunit; Pyruvate dehydrogenase complex component E2; PDC-E2; PDCE2
Protein Family:Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex
UniProt Gene Name:DLAT��
UniProt Entry Name:ODP2_HUMAN

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