Omega-hydroxyceramide transacylase
Definition:
References:
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[1]. Yusuke Ohno, et al. PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide. Nat Commun. 2017 Mar 1;8:14610. [Content Brief]
[2]. Anaïs Grall, et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012 Jan 15;44(2):140-7. [Content Brief]
[3]. Susanne Grond, et al. PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides. J Invest Dermatol. 2017 Feb;137(2):394-402. [Content Brief]