Entrez Summary: 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].
UniProt Summary: 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. {ECO:0000269|PubMed:17562024}.
Pfam DomainsGO Terms
Pfam Domains
Abhydrolase 1
Abhydro lipase
Abhydrolase 6
Abhydrolase 5
GO Terms
lipase activity
cornification
keratinization
keratinocyte differentiation
lipid catabolic process
epidermal cell differentiation
skin development
epidermis development
epithelial cell differentiation
intracellular membrane-bounded organelle
cellular lipid metabolic process
programmed cell death
cell death
epithelium development
lipid metabolic process
tissue development
organic substance catabolic process
extracellular region
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)