PNPLA1, patatin like phospholipase domain containing 1

PNPLA1, patatin like phospholipase domain containing 1

• 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]

• Gene Synonyms (patatin-like phospholipase domain-containing protein 1, ARCI10, dJ50J22.1,)
• NCBI Gene ID: 285848
• Species: Homo sapiens (Human)
• UNIPROT ID#>>B8XXQ3
  UNIPROT ID#>>Q8N8W4
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

patatin like phospholipase domain containing 1 interacts with:

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