The CGI-58 protein belongs to a large family of proteins characterized by an ??hydrolase fold. CGI-58 protein is involved in the lipid metabolism of lamellar granules. Defective lipid production in lamellar granules, caused by a CGI-58 protein deficiency, is involved in the pathogenesis of ichthyosis in Dorfman?hanarin syndrome. Dorfman?hanarin syndrome is a rare autosomal recessive inherited lipid storage disease characterized by the presence of intracellular lipid droplets in most tissues.
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