CEL（羧酸酯脂肪酶）是一种由胰腺分泌的消化酶，属于羧酸酯酶基因家族（CES基因家族）。它的主要功能是水解饮食中的胆固醇酯、甘油三酯和其他脂类，帮助肠道吸收脂肪和脂溶性维生素。CEL在十二指肠和小肠上段发挥作用，其活性依赖于胆汁酸盐的存在。CEL基因位于人类染色体9q34.3，包含11个外显子。该基因的突变可能导致CEL相关疾病，如CEL-MODY（青少年发病的成人型糖尿病的一种罕见亚型），这种突变通常发生在CEL的VNTR（可变数目串联重复）区域，导致蛋白错误折叠和胰腺β细胞功能受损。CEL过表达可能与肥胖和血脂异常相关，因为它增加了脂肪吸收效率；而CEL表达降低可能导致脂肪吸收不良和脂溶性维生素缺乏。CES基因家族的共性包括具有α/β水解酶折叠结构、保守的催化三联体（Ser-His-Glu）以及水解酯键的能力。家族成员参与多种生理过程，包括药物代谢、脂质处理和解毒。CEL与其他CES成员（如CES1和CES2）的区别在于其组织特异性表达和底物偏好。研究还发现CEL可能参与胆固醇代谢调控，并与动脉粥样硬化风险相关。某些CEL多态性可能影响个体对降胆固醇药物的反应。在胰腺炎患者中，CEL分泌可能减少，导致消化不良。由于CEL在脂肪消化中的关键作用，它成为研究代谢紊乱和开发相关治疗药物的潜在靶点。

Carboxylester lipase (CEL) is a pancreatic digestive enzyme that belongs to the carboxylesterase (CES) gene family, a group of proteins characterized by an α/β-hydrolase fold and a conserved Ser-His-Glu catalytic triad that confers the ability to hydrolyze ester bonds. Encoded by a gene located at chromosome 9q34.3 comprising 11 exons, CEL is primarily active in the duodenum and proximal small intestine, where it facilitates the breakdown of dietary cholesterol esters, triglycerides, and other lipids in a bile salt-dependent manner, thereby promoting the intestinal absorption of fats and fat-soluble vitamins. Unlike other CES family members such as CES1 and CES2, which are broadly involved in drug metabolism and detoxification, CEL exhibits distinct tissue-specific expression and substrate preference, focusing on lipid processing in the gastrointestinal tract. Mutations in the CEL gene, particularly those affecting the variable number tandem repeat (VNTR) region, can lead to protein misfolding and impaired pancreatic beta-cell function, resulting in a rare form of maturity-onset diabetes of the young known as CEL-MODY. Furthermore, the expression levels of CEL have significant implications for metabolic health; overexpression may enhance fat absorption efficiency, potentially contributing to obesity and dyslipidemia, while reduced expression can cause fat malabsorption and deficiencies in fat-soluble vitamins. CEL also plays a role in cholesterol metabolism regulation, with certain polymorphisms influencing individual responses to cholesterol-lowering therapies and potentially affecting the risk of atherosclerosis. In conditions such as pancreatitis, decreased CEL secretion can exacerbate digestive dysfunction. Given its central role in lipid digestion and its association with metabolic disorders, CEL represents a promising target for investigating metabolic pathologies and developing therapeutic interventions.

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