Hlcs Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Property | Value |
|---|---|
| Gene Symbol | HLCS |
| Full Name | Holocarboxylase Synthetase |
| Chromosomal Location | 21q22.12 |
| NCBI Gene ID | 3141 |
| OMIM ID | 609018 |
| Ensembl ID | ENSG00000119669 |
| UniProt ID | Q9NP80 |
| Encoded Protein | Holocarboxylase synthetase |
| Associated Diseases | Multiple carboxylase deficiency, neurodegeneration |
HLCS is a gene involved in various cellular processes. The encoded protein plays important roles in metabolism, cellular signaling, and disease pathogenesis.
HLCS encodes holocarboxylase synthetase, a biotin-dependent enzyme that catalyzes the biotinylation of carboxylases. This enzyme is essential for metabolism of fatty acids, amino acids, and carbohydrates.
Key functions include:
HLCS mutations cause holocarboxylase synthetase deficiency, characterized by:
HLCS deficiency may contribute to neurodegeneration through:
HLCS is expressed in:
The study of Hlcs Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.