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]
Function:
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.
Subcellular Location:
Secreted.
Tissue Specificity:
Exclusively expressed in the epidermis within the granular keratinocytes.
Similarity:
Belongs to the AB hydrolase superfamily. Lipase family.
SWISS:
Q5VXI9
Gene ID:
643418
Database links:
Entrez Gene: 643418 Human
Omim: 613924 Human
SwissProt: Q5VXI9 Human
Unigene: 66491 Human
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