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HLCS

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.
Full Name
Holocarboxylase Synthetase
Function
Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase.
Biological Process
Biotin metabolic process Source: Reactome
Histone biotinylation Source: UniProtKB
Histone modification Source: UniProtKB
Protein biotinylation Source: UniProtKB
Response to biotin Source: UniProtKB
Cellular Location
Cytoplasm; Mitochondrion
Involvement in disease
Holocarboxylase synthetase deficiency (HLCS deficiency):
A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin.
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Anti-HLCS antibodies

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Rabbit Anti-HLCS Recombinant Antibody (CBFYH-1478) (CBMAB-H2432-FY)

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Target: HLCS
Host: Rabbit
Antibody Isotype: IgG
Specificity: Mouse, Rat, Human
Clone: CBFYH-1478
Application*: WB, P, F
Datasheet SDS

Mouse Anti-HLCS Recombinant Antibody (CBFYH-1477) (CBMAB-H2431-FY)

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Target: HLCS
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYH-1477
Application*: WB, IH, F
Datasheet SDS

Mouse Anti-HLCS Recombinant Antibody (CBFYH-1476) (CBMAB-H2430-FY)

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Target: HLCS
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYH-1476
Application*: WB, F, IH, P
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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