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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.
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The results show potential phenotypic variation in a small percentage of patients with PNPLA1 mutations. The variability of the clinical manifestations and the lack of typical clinical features are specific for patients with PNPLA1 mutations.
Data support that PNPLA1/Pnpla1 is a key player in the formation of omega-O-acylceramide, a crucial process for the epidermal permeability barrier function.
analysis of distinct and previously unreported mutations in the PNPLA1 gene in nine extended consanguineous families with autosomal recessive congenital ichthyosis (show LBR Proteins)
an essential role of PNPLA1 in the synthesis of omega-O-AcylCers in human and murine skin.
the variant identified will expand the spectrum of mutations in the PNPLA1 gene, provides more evidence for lack of genotype-phenotype correlation and clinical variability in PNPLA1 and underscores its role in causing autosomal recessive congenital ichthyosis (show LBR Proteins)
Letter: novel missense PNPLA1 variant causing autosomal recessive congenital ichthyosis (show LBR Proteins) in a Pakistani family.
Results show that PNPLA1 missense mutations observed in this European family affect the patanin-like domain
One missense and one nonsense mutation in the catalytic domain of human PNPLA1 were found in six individuals with autosomal recessive congenital ichthyoses from two families.
PNPLA1 exhibited a modest effect on obesity
results indicate PNPLA1 is a skin-specific and membrane-associated protein (show PDZK1IP1 Proteins), suggesting that it may mainly play a role in the skin
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