Schratter Margarita, Lass Achim, Radner Franz P W
Institute of Molecular Biosciences, NAWI Graz, University of Graz, 8010 Graz, Austria.
BioTechMed-Graz, 8010 Graz, Austria.
Metabolites. 2022 Oct 24;12(11):1015. doi: 10.3390/metabo12111015.
The α/β-Hydrolase domain-containing protein 5 (; also known as comparative gene identification-58, or CGI-58) is the causative gene of the Chanarin-Dorfman syndrome (CDS), a disorder mainly characterized by systemic triacylglycerol accumulation and a severe defect in skin barrier function. The clinical phenotype of CDS patients and the characterization of global and tissue-specific ABHD5-deficient mouse strains have demonstrated that ABHD5 is a crucial regulator of lipid and energy homeostasis in various tissues. Although ABHD5 lacks intrinsic hydrolase activity, it functions as a co-activating enzyme of the patatin-like phospholipase domain-containing (PNPLA) protein family that is involved in triacylglycerol and glycerophospholipid, as well as sphingolipid and retinyl ester metabolism. Moreover, ABHD5 interacts with perilipins (PLINs) and fatty acid-binding proteins (FABPs), which are important regulators of lipid homeostasis in adipose and non-adipose tissues. This review focuses on the multifaceted role of ABHD5 in modulating the function of key enzymes in lipid metabolism.
含α/β水解酶结构域蛋白5（；也称为比较基因识别-58，或CGI-58）是钱纳林-多夫曼综合征（CDS）的致病基因，该疾病主要特征为全身性三酰甘油蓄积以及皮肤屏障功能严重缺陷。CDS患者的临床表型以及全身性和组织特异性ABHD5缺陷小鼠品系的特征表明，ABHD5是多种组织中脂质和能量稳态的关键调节因子。尽管ABHD5缺乏内在水解酶活性，但它作为含帕他丁样磷脂酶结构域（PNPLA）蛋白家族的共激活酶发挥作用，该家族参与三酰甘油和甘油磷脂以及鞘脂和视黄酯代谢。此外，ABHD5与围脂滴蛋白（PLIN）和脂肪酸结合蛋白（FABP）相互作用，它们是脂肪组织和非脂肪组织中脂质稳态的重要调节因子。本综述重点关注ABHD5在调节脂质代谢关键酶功能方面的多方面作用。
