The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. In many of the body’s tissues, holocarboxylase synthetase turns on (activates) enzymes called biotin-dependent carboxylases by attaching biotin to them. These carboxylases are involved in many critical cellular functions, including the production and breakdown of proteins, fats, and carbohydrates.
Holocarboxylase synthetase plays a role in regulating the activity (transcription) of genes. Transcription is the first step in the process of producing proteins. Specifically, the enzyme regulates genes that play a role in the transport and use of biotin in cells. Biotin is needed for the normal function of many tissues, including the brain, muscles, liver, and kidneys.
Other Names
biotin apo-protein ligase; biotin-protein ligase; BPL1_HUMAN; HCS; holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase); holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)
Related Genetics Topics
Identifiers
- NCBI Gene: 3141
- OMIM: 609018
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
