QuickView for acylceramide (biogroup)

Description:: Members of this family share a patatin domain, initially discovered in potato tubers, and are known as patatin-like phospholipase domain containing proteins (PNPLA). They serve critical roles in diverse aspects of lipid metabolism and signaling. Some PNPLA1 proteins do not have the lipase consensus sequence Gly-X-Ser-X-Gly which is essential for hydrolase activity. This entry includes PNPLA1 from Homo sapiens and Gallus gallus. It is expressed in various human tissues in low mRNA levels.PNPLA1 has a role in the formation of the epidermal lipid barrier; mutations in this gene are associated with the skin disorder known as ichthyosis. PNPLA1 has been shown to be a transacylase that functions in the last step of acylceramide synthesis, catalysing the esterification of omega-hydroxyceramide with linoleic acid. Acylceramide is a essential skin barrier lipid.
Taxonomy/Path:: InterPro : Patatin-like phospholipase domain-containing protein / Patatin-like phospholipase domain-containing protein 1

1 feature

Symbol	EntrezGene ID
PNPLA1	285848