Human Pyruvate carboxylase ELISA Kit | PC elisa kit

Human Pyruvate carboxylase, mitochondrial ELISA Kit

Cat. Num. AAA289331

• Gene Names: PC; PCB
• Reactivity: Human
• Synonyms: Pyruvate carboxylase; Human Pyruvate carboxylase; mitochondrial ELISA Kit; mitochondrial; Pyruvic carboxylase; PCB; PC; 6.4.1.1; PC elisa kit

• Reactivity: Human
• Sequence Length: 1178

• Preparation and Storage: For long term storage, please store the entire kit at -20 degree C.

NCBI and Uniprot Product Information

• NCBI GI #: 106049295
• NCBI GeneID: 5091
• NCBI Accession #: NP_000911.2
• NCBI GenBank Nucleotide #: NM_000920.3
• UniProt Accession #: P11498; Q16705; B4DN00
• Molecular Weight: 57,925 Da
• NCBI Official Full Name: pyruvate carboxylase, mitochondrial
• NCBI Official Synonym Full Names: pyruvate carboxylase
• NCBI Official Symbol: PC
• NCBI Official Synonym Symbols: PCB
• NCBI Protein Information: pyruvate carboxylase, mitochondrial
• UniProt Protein Name: Pyruvate carboxylase, mitochondrial
• Protein Family: Pyruvate carboxylase
• UniProt Gene Name: PC
• UniProt Synonym Gene Names: PCB
• UniProt Entry Name: PYC_HUMAN

NCBI Description

This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

Uniprot Description

PC: Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate. Defects in PC are the cause of pyruvate carboxylase deficiency (PC deficiency). PC deficiency leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia.

Protein type: Carbohydrate Metabolism - citrate (TCA) cycle; EC 6.4.1.1; Mitochondrial; Carbohydrate Metabolism - pyruvate; Ligase

Chromosomal Location of Human Ortholog: 11q13.4-q13.5

Cellular Component: cytoplasm; cytosol; mitochondrial matrix; mitochondrion

Molecular Function: ATP binding; biotin binding; biotin carboxylase activity; DNA binding; metal ion binding; protein binding; pyruvate carboxylase activity

Biological Process: biotin metabolic process; carbohydrate metabolic process; gluconeogenesis; glucose metabolic process; lipid metabolic process; oxaloacetate metabolic process; pyruvate metabolic process; viral RNA genome packaging; vitamin metabolic process; water-soluble vitamin metabolic process

Disease: Pyruvate Carboxylase Deficiency