PNPLA1
patatin-like phospholipase domain containing 1
ARCI10, dJ50J22.1
Human PNPLA1 (285848), Mouse Pnpla1 (433091), Rat Pnpla1 (361812), Horse PNPLA1 (100063661), domestic cat PNPLA1 (101091788), naked mole-rat Pnpla1 (101713574), chicken PNPLA1 (428259), domestic guinea pig Pnpla1 (100728999), cow PNPLA1 (786888), dog PNPLA1 (481763)
- Human(285848) 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]
- Mouse(433091) patatin-like phospholipase domain containing 1
- Rat(361812) patatin-like phospholipase domain containing 1
- Horse(100063661) patatin-like phospholipase domain containing 1
- domestic cat(101091788) patatin-like phospholipase domain containing 1
- naked mole-rat(101713574) patatin-like phospholipase domain containing 1
- chicken(428259) patatin-like phospholipase domain containing 1
- domestic guinea pig(100728999) patatin-like phospholipase domain containing 1
- cow(786888) patatin-like phospholipase domain containing 1
- dog(481763) patatin-like phospholipase domain containing 1
- sheep(101120362) patatin-like phospholipase domain containing 1
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