HLCS : holocarboxylase synthetase

Description of the HLCS Gene

The human holocarboxylase synthetase (HLCS) gene, located on chromosome 21, provides the instructions for producing an enzyme known as holocarboxylase synthetase. This enzyme plays a vital role in the metabolism of biotin, a crucial B vitamin.

Biotin Metabolism and HLCS Function

Holocarboxylase synthetase facilitates the optimal utilization of biotin, which is obtained from dietary sources such as liver, egg yolks, and milk. Within the body‘s cells, this enzyme attaches biotin to biotin-dependent carboxylases, activating them. These carboxylases participate in essential cellular functions, including the production and breakdown of proteins, fats, and carbohydrates.

HLCS and Gene Regulation

HLCS also functions as a transcriptional regulator, influencing the activity (transcription) of certain genes. Transcription marks the initial step in the synthesis of proteins. Notably, HLCS controls genes involved in the transport and utilization of biotin within cells. Biotin is indispensable for the proper functioning of various tissues, encompassing the brain, muscles, liver, and kidneys.

Associated Diseases

Mutations in the HLCS gene can lead to a rare condition known as biotinidase deficiency, also referred to as holocarboxylase synthetase deficiency. This condition manifests as an impaired ability to utilize biotin, resulting in a range of symptoms, including seizures, developmental delays, and muscle weakness.

Did you Know ?

Approximately 1 in 60,000 newborns worldwide are affected by biotinidase deficiency, making it a relatively rare genetic disorder. Early detection and treatment with biotin supplements can effectively mitigate its adverse effects.