CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.

[harlequin ichthyosis]

CGI-58 is the causative molecule underlying Dorfman-Chanarin syndrome , a neutral lipid storage disease exhibiting apparent clinical features of ichthyosis . CGI-58 , associated with triacylglycerol hydrolysis , has an alpha /beta -hydrolase fold and is also known as the alpha /beta -hydrolase domain-containing protein 5 . The purpose of this study was to elucidate the function of CGI-58 and the pathogenic mechanisms of ichthyosis in Dorfman-Chanarin syndrome . Using an anti-CGI-58 antibody , we found CGI-58 to be expressed in the upper epidermis , predominantly in the granular layer cells , as well as in neurons and hepatocytes . Immunoelectron microscopy revealed that CGI-58 was also localized to the lamellar granules (LGs ), which are lipid transport and secretion granules found in keratinocytes . CGI-58 expression was markedly reduced in the epidermis of patients with harlequin ichthyosis , demonstrating defective LG formation . In cultured keratinocytes , CGI-58 expression was mildly up-regulated under high Ca (2 +) conditions and markedly up-regulated in three -dimensional , organotypic cultures . In the developing human epidermis , CGI-58 immunostaining was observed at an estimated gestational age of 49 days , and CGI-58 mRNA expression was up-regulated concomitantly with both epidermal stratification and keratinocyte differentiation . CGI-58 knockdown reduced expression of keratinocyte differentiation /keratinization markers in cultured human keratinocytes . Our results indicate that CGI-58 is expressed and packaged into LGs during keratinization and likely plays crucial role (s ) in keratinocyte differentiation and LG lipid metabolism , contributing to skin lipid barrier formation .

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Diseases presenting "cultured human keratinocytes" symptom

harlequin ichthyosis

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