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. 2019 Feb 21;8(2):187. doi: 10.3390/cells8020187

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© 2019 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Domain organization of the α-β hydrolase domain 5 (ABHD5) protein, and variations associated with NLSD with ichthyosis (NLSDI). ABHD5 comprises 349 amino acids, characterized by an LD-binding site (hydrophobic domain) and an α/β hydrolase domain that includes two residues involved in ATGL and perilipin interaction (Q130 and E260). All ABHD5 mutations are shown based on recommendations for sequence variant description of HGVS-nomenclature website. Five variations (g.43728907_43732862del3955ins26, c.135 - 2A > G; c.506 - 3C > G; c.507-1G > A; IVS6 + 6A > T), that alter or abrogate RNA expression are not shown in the scheme.