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Fig. 1 | Lipids in Health and Disease

Fig. 1

From: A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

Fig. 1

ABHD5 protein structure and function. Schematic representation of ABHD5 protein (a). The ABHD5 protein is characterized by two functional domains: a LD-binding site (hydrophobic domain) and an α/βhydrolase domain that includes two amino acid residues involved in ATGL and perilipin interaction (Q130 and E260). ABHD5 as coactivator of PNPLA1 and ATGL (b). During the formation of the skin barrier (keratinocytes), ABHD5 activates PNPLA1 determining the production of ὠ–O-acylceramide. In liver, muscle and many other tissues (including skin), ABHD5 acts as ATGL coactivator, inducing TAG hydrolysis

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