Anti-HLCS Antibody Picoband® APC Conjugated

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.

HLCS; Biotin--protein ligase; EC 6.3.4.-; Biotin apo-protein ligase [Includes: Biotin--[methylmalonyl-CoA-carboxytransferase] ligase; EC 6.3.4.9; Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase; EC 6.3.4.10; Holocarboxylase synthetase; HCS; Biotin--[methylcrotonoyl-CoA-carboxylase] ligase; EC 6.3.4.11; Biotin--[acetyl-CoA-carboxylase] ligase; EC 6.3.4.15]

1. Aoki, Y., Li, X., Sakamoto, O., Hiratsuka, M., Akaishi, H., Xu, L., Briones, P., Suormala, T., Baumgartner, E. R., Suzuki, Y., Narisawa, K. Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. Hum. Genet. 104: 143-148, 1999. 2. Aoki, Y., Suzuki, Y., Li, X., Sakamoto, O., Chikaoka, H., Takita, S., Narisawa, K. Characterization of mutant holocarboxylase synthetase (HCS) : a Km for biotin was not elevated in a patient with HCS deficiency. Pediat. Res. 42: 849-854, 1997. 3. Dupuis, L., Leon-Del-Rio, A., Leclerc, D., Campeau, E., Sweetman, L., Saudubray, J. M., Herman, G., Gibson, K. M., Gravel, R. A. Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Hum. Molec. Genet. 5: 1011-1016, 1996.