Fig. 5: Mechanism of action of C3ORF52.
From: Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis
A scheme summarizing the proposed mechanism of action of C3ORF52 (upper panel) and the consequences of the localized autosomal recessive hypotrichosis (LAH)-associated variants (lower panel) is shown. Briefly, under normal circumstances (upper panel), after binding of C3ORF52, lipase H is able to catalyze the transformation of phosphatidic acid (PA) into acyl-lysophosphatidic acid (LPA). LPA then binds to the LPAR6 receptor, which drives hair follicle morphogenesis through upregulation of TGF-α release. In the absence of functional C3ORF52 (lower panel), lipase H ability to catalyze LPA formation is impaired, and as a consequence TGF-α is not released, and hair growth is abnormal.
