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Xenobiotic_sensitivity Report for: CES-1 deficiency

Alternative name(s)|
Mutation|4 mutations (e.g. : CES1VAR_human-CES1, D260frameshift_human-CES1, G143E_human-CES1... more)
OMIM: |114835

The human carboxylesterase 1 (CES1) gene encodes for the enzyme carboxylesterase 1, a serine esterase governing both metabolic deactivation and activation of numerous therapeutic agents. Two CES1 Gene Mutations Lead to Dysfunctional Carboxylesterase 1 Activity in Man. The CES1-related pseudogene, carboxylesterase 1 pseudogene 1 (CES1P1), has been implicated in gene exchange with CES1 and in the formation of hybrid genes including the carboxylesterase 1A2 gene (CES1A2) see Rasmussen et al. 2018 for recent evaluation of genotyping procedures

    Title: The impact of human CES1 genetic variation on enzyme activity assessed by ritalinic acid/methylphenidate ratios
    Stage C, Dalhoff K, Rasmussen HB, Schow Guski L, Thomsen R, Bjerre D, Ferrero-Miliani L, Busk Madsen M, Jurgens G
    Ref: Basic Clin Pharmacol Toxicol, 125:54, 2019 : PubMed


    Title: Effects of Genetic Variants on Carboxylesterase 1 Gene Expression, and Clopidogrel Pharmacokinetics and Antiplatelet Effects
    Neuvonen M, Tarkiainen EK, Tornio A, Hirvensalo P, Tapaninen T, Paile-Hyvarinen M, Itkonen MK, Holmberg MT, Karja V and Niemi M <4 more author(s)>
    Ref: Basic Clin Pharmacol Toxicol, 122:341, 2018 : PubMed


    Title: Carboxylesterase 1 genes: systematic review and evaluation of existing genotyping procedures
    Rasmussen HB, Madsen MB
    Ref: Drug Metab Pers Ther, 33:3, 2018 : PubMed


    Title: The impact of CES1 genotypes on the pharmacokinetics of methylphenidate in healthy Danish subjects
    Stage C, Jurgens G, Guski LS, Thomsen R, Bjerre D, Ferrero-Miliani L, Lyauk YK, Rasmussen HB, Dalhoff K
    Ref: British Journal of Clinical Pharmacology, 83:1506, 2017 : PubMed


    Title: Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus
    Sanford JC, Wang X, Shi J, Barrie ES, Wang D, Zhu HJ, Sadee W
    Ref: Pharmacogenet Genomics, 26:197, 2016 : PubMed


    Title: CES1 genetic variation affects the activation of angiotensin-converting enzyme inhibitors
    Wang X, Wang G, Shi J, Aa JY, Comas R, Liang Y, Zhu HJ
    Ref: Pharmacogenomics J, 16:220, 2016 : PubMed


    Title: Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis
    Zhu HJ, Patrick KS, Yuan HJ, Wang JS, Donovan JL, DeVane CL, Malcolm R, Johnson JA, Youngblood GL and Markowitz JS <2 more author(s)>
    Ref: American Journal of Human Genetics, 82:1241, 2008 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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