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The protein encoded by PNPLA1 belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. Zusätzlich bieten wir Ihnen PNPLA1 Proteine (2) und viele weitere Produktgruppen zu diesem Protein an.
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Human Polyclonal PNPLA1 Primary Antibody für WB - ABIN949938
Grall, Guaguère, Planchais, Grond, Bourrat, Hausser, Hitte, Le Gallo, Derbois, Kim, Lagoutte, Degorce-Rubiales, Radner, Thomas, Küry, Bensignor, Fontaine, Pin, Zimmermann, Zechner, Lathrop, Galibert et al.: PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. ... in Nature genetics 2012
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.
patatin-like phospholipase domain-containing protein 1