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]
Function:
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.
Subcellular Location:
Cytoplasm. Mitochondrion.
Tissue Specificity:
Mostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and lung.
DISEASE:
Defects in HLCS are the cause of holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]; 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.
Similarity:
Belongs to the biotin--protein ligase family.
SWISS:
P50747
Gene ID:
3141
Database links:
Entrez Gene: 3141 Human
Entrez Gene: 110948 Mouse
Entrez Gene: 28848 Rat
Omim: 609018 Human
SwissProt: P50747 Human
SwissProt: Q920N2 Mouse
Unigene: 371350 Human
Unigene: 30921 Mouse
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