PNPLA1, Official Symbol PNPLA1provided by HGNC Official Full Name patatin like phospholipase domain containing 1provided by HGNC Primary source HGNC:HGNC:21246 See related Ensembl:ENSG00000180316 MIM:612121; AllianceGenome:HGNC:21246 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARCI10; dJ50J22.1 Summary 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] Expression Biased expression in skin (RPKM 6.2), kidney (RPKM 1.5) and 2 other tissues See more Orthologs mouse all