Holocarboxylase Synthetase (HLCS) Antibody – Rabbit Polyclonal

This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]

HLCS: Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl- CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase. Defects in HLCS are the cause of holocarboxylase synthetase deficiency (HLCS deficiency); also known as biotin-responsive multiple carboxylase deficiency. HLCS deficiency is a neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder characterized by metabolic ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites and dermatitis. Clinical and biochemical symptoms improve dramatically with administration of biotin. Belongs to the biotin--protein ligase family.

Protein type: Ligase; EC 6.3.4.15; Cofactor and Vitamin Metabolism - biotin; EC 6.3.4.10; EC 6.3.4.11; Mitochondrial; EC 6.3.4.9

Chromosomal Location of Human Ortholog: 21q22.13

Cellular Component: nuclear lamina; nuclear matrix; mitochondrion; cytoplasm; cytosol; chromatin

Molecular Function: protein binding; biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity; enzyme binding; protein homodimerization activity; biotin-[acetyl-CoA-carboxylase] ligase activity; biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity; biotin-protein ligase activity; biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity; ATP binding; biotin binding

Biological Process: cell proliferation; vitamin metabolic process; histone modification; protein amino acid biotinylation; biotin metabolic process; water-soluble vitamin metabolic process

Disease: Holocarboxylase Synthetase Deficiency