Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation

NIPAL4, the gene encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI) [1]. The physiological role of NIPAL4 and the pathogenetic mechanisms of ARCI caused by NIPAL4 mutations remain unclear, although some recent studies have indicated that NIPAL4 may be a putative Mg2+ transporter [2,3] and that loss-of-function of NIPAL4 might lead to a failure of differentiation-dependent gene expression in keratinocytes, resulting in a defective acylceramide synthesis by keratinocytes [3].

Source: Journal of Dermatological Science - December 3, 2019 Category: Dermatology Authors: Yuya Murase, Takuya Takeichi, Akane Kawamoto, Kana Tanahashi, Yusuke Okuno, Hiroyuki Takama, Eri Shimizu, Junko Ishikawa, Tomoo Ogi, Masashi Akiyama Source Type: research