RecName: Full=Lipase member N; AltName: Full=Lipase-like abhydrolase d - Protein

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A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. [Am J Hum Genet. 2011]
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.
Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E. Am J Hum Genet. 2011 Apr 8; 88(4):482-7.
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. [Hum Mol Genet. 2006]
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Mégarbané A, Lathrop M, Prud'homme JF, Fischer J. Hum Mol Genet. 2006 Mar 1; 15(5):767-76. Epub 2006 Jan 25.
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. [Hum Mutat. 2005]
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC. Hum Mutat. 2005 Oct; 26(4):351-61.

RefSeq genomic sequence
See the genomic reference sequence for the LIPN gene (NG_031911.1).
RefSeq protein isoforms
See 14 reference sequence protein isoforms for the LIPN gene.

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Q5VXI9 [Domain Mapping of Disease Mut...]
Q5VXI9
Domain Mapping of Disease Mutations
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