HLCS wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HLCS wild-type allele is located in the vicinity of 21q22.13 and is approximately 242 kb in length. This allele, which encodes biotin-protein ligase protein, is involved in the biotinylation of enzymes involved in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Loss of function mutations in the gene are associated with holocarboxylase synthetase deficiency.

**Synonyms:** - Biotin--[Acetyl-CoA-Carboxylase] Ligase Gene - Biotin--[Methylcrotonoyl-CoA-Carboxylase] Ligase Gene - Biotin--[Methylmalonyl-CoA-Carboxytransferase] Ligase Gene - Biotin-[Acetyl-CoA-Carboxylase] Ligase Gene - HCS - Holocarboxylase Synthetase (Biotin-(Proprionyl-CoA-Carboxylase (ATP-Hydrolysing)) Ligase) Gene - Holocarboxylase Synthetase (Biotin-(Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)) Ligase) Gene - Holocarboxylase Synthetase (Biotin-[Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)] Ligase) Gene - Holocarboxylase Synthetase wt Allele