Aliases for PNPLA1 Gene
External Ids for PNPLA1 Gene
Previous GeneCards Identifiers for PNPLA1 Gene
The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
GeneCards Summary for PNPLA1 Gene
PNPLA1 (Patatin Like Phospholipase Domain Containing 1) is a Protein Coding gene. Diseases associated with PNPLA1 include Ichthyosis, Congenital, Autosomal Recessive 10 and Congenital Ichthyosiform Erythroderma. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is PNPLA2.
UniProtKB/Swiss-Prot for PNPLA1 Gene
Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism.