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Holocarboxylase Synthetase (HLCS)

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HCS; Biotin-[Proprionyl-Coenzyme A-Carboxylase(ATP-hydrolysing)]Ligase; Biotin apo-protein ligase Holocarboxylase synthetase

Holocarboxylase Synthetase (HLCS)
CCC D684
HGNC 4976
MGI 894646
PubMed 16134170
RGD 1565360
UniProt P50747
Wiki HLCS
HLCS is a human gene that provides instructions for making an enzyme called holocarboxylase synthetase (EC 6.3.4.10). 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 activates other specific 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 may also play a role in regulating the activity of genes. In the nucleus, the enzyme likely attaches biotin molecules to histones, which are structural proteins that bind to DNA and give chromosomes their shape.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD684Hu01 Recombinant Holocarboxylase Synthetase (HLCS) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Holocarboxylase Synthetase (HLCS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Holocarboxylase Synthetase (HLCS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Holocarboxylase Synthetase (HLCS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Holocarboxylase Synthetase (HLCS) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Holocarboxylase Synthetase (HLCS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Holocarboxylase Synthetase (HLCS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Holocarboxylase Synthetase (HLCS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Holocarboxylase Synthetase (HLCS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Holocarboxylase Synthetase (HLCS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Holocarboxylase Synthetase (HLCS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Holocarboxylase Synthetase (HLCS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Holocarboxylase Synthetase (HLCS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Holocarboxylase Synthetase (HLCS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Holocarboxylase Synthetase (HLCS) ELISA Kit Customized Service Offer
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  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  11. "Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients."Biochim. Biophys. Acta 1272:168-174(1995) [PubMed] [Europe PMC] [Abstract]
  12. "Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency."Hum. Mol. Genet. 5:1011-1016(1996) [PubMed] [Europe PMC] [Abstract]
  13. "Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency."Pediatr. Res. 42:849-854(1997) [PubMed] [Europe PMC] [Abstract]
  14. "Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency."Hum. Genet. 104:143-148(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency."Pediatr. Res. 46:671-676(1999) [PubMed] [Europe PMC] [Abstract]
  16. "Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency."Am. J. Med. Genet. 111:10-18(2002) [PubMed] [Europe PMC] [Abstract]
  17. "A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency."Clin. Biochem. 36:145-149(2003) [PubMed] [Europe PMC] [Abstract]
  18. "Mutations in the holocarboxylase synthetase gene HLCS."Hum. Mutat. 26:285-290(2005) [PubMed] [Europe PMC] [Abstract]
  19. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  20. "Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency."Hum. Mutat. 29:E47-E57(2008) [PubMed] [Europe PMC] [Abstract]
  21. "Holocarboxylase synthetase deficiency: novel clinical and molecular findings."Clin. Genet. 78:88-93(2010) [PubMed] [Europe PMC] [Abstract]
  22. "Severe neonatal holocarboxylase synthetase deficiency in west african siblings."JIMD Rep. 20:1-4(2015) [PubMed] [Europe PMC] [Abstract]