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Article

Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis.

American journal of human genetics - 1 Jun 2008

Zhu Hao-Jie, Patrick Kennerly S, Yuan Hong-Jie, Wang Jun-Sheng, Donovan Jennifer L, DeVane C Lindsay, Malcolm Robert, Johnson Julie A, Youngblood Geri L, Sweet Douglas H, Langaee Taimour Y, Markowitz John S

Abstract excerpt

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. During the course of a study of the pharmacokinetics of the methyl ester racemic psychostimulant methylphenidate, profoundly elevated methylphenidate plasma concentrations, unprecedented distortions in isomer disposition, and...

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Source

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Identifiers

PMID: 18485328
DOI: 10.1016/j.ajhg.2008.04.015
PMCID: PMC2427248

Genes

CES1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis.PMID 18485328Read ↗

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