Gene: CES1

Alternate names for this Gene: ACAT|CE-1|CEH|CES2|HMSE|HMSE1|PCE-1|REH|SES1|TGH|hCE-1

Gene Summary: This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16q12.2

Description of this Gene: carboxylesterase 1

Type of Gene: protein-coding

rs2244614 in CES1 gene and Meningococcal Infections PMID 20694013 2010 Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.