Aliases for LIPN Gene
External Ids for LIPN Gene
Previous HGNC Symbols for LIPN Gene
Previous GeneCards Identifiers for LIPN Gene
The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]
GeneCards Summary for LIPN Gene
LIPN (Lipase Family Member N) is a Protein Coding gene. Diseases associated with LIPN include Ichthyosis, Congenital, Autosomal Recessive 8 and Lipn-Related Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Metabolism and Lipoprotein metabolism. GO annotations related to this gene include hydrolase activity, acting on ester bonds. An important paralog of this gene is LIPA.
UniProtKB/Swiss-Prot for LIPN Gene
Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.