Gene Symbol | HLCS |
Entrez Gene ID | 3141 |
Full Name | holocarboxylase synthetase |
Synonyms | HCS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Holocarboxylase synthetase deficiency, 253270 (3) |