LIPN Gene

The LIPN gene (LIPN stands for "Lipase Family Member N") is a protein coding gene located on chromosome 10q23.3.

Diseases associated with LIPN include:

• Ichthyosis, lamellar, congenital, autosomal recessive with mutation in LIPN.

Lipase encoded by this gene develops hydrolase activity acting on ester bonds.

For genetic diagnosis, obtaining mRNA from hair follicle epithelial cells corresponding to keratinocytes in the interfollicular epidermis is convenient and minimally invasive in patients with ARCI (Sugiura K et al. 2015).

1. Israeli S et al.(2011) A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet 88:482-487.
2. Richard G (2017) Autosomal Recessive Congenital Ichthyosis. 2001 Jan 10 [updated 2017 May 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
3. Rodríguez-Pazos L et al. (2011) Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. Br J Dermatol 165:906-911.
4. Sugiura K et al. (2015) Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. J Dermatol Sci 79:4-9.