PNPLA1 Antibody

1. We report two novel PNPLA1 mutations including one novel missense mutation c.335C > A (p.Ser112Tyr) and one novel deletion mutation c.733_735delTAC (p.Tyr245del) in Turkish autosomal recessive congenital ichthyosis patients from unrelated consanguineous families. PMID: 29624231
2. PNPLA1 catalyses the omega-O-esterification with linoleic acid to form acylceramides. PMID: 28248300
3. PNPLA1 is directly involved in acylceramide synthesis as a transacylase. PMID: 28248318
4. The PNPLA1 mutations reportedhere show PNPLA1 to be an important, if relatively rare, cause of ARCI. PMID: 28403545
5. 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. PMID: 28093717
6. 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. PMID: 28369476
7. analysis of distinct and previously unreported mutations in the PNPLA1 gene in nine extended consanguineous families with autosomal recessive congenital ichthyosis PMID: 27884779
8. an essential role of PNPLA1 in the synthesis of omega-O-AcylCers in human and murine skin. PMID: 27751867
9. 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 PMID: 26691440
10. Letter: novel missense PNPLA1 variant causing autosomal recessive congenital ichthyosis in a Pakistani family. PMID: 26778108
11. Results show that PNPLA1 missense mutations observed in this European family affect the patanin-like domain PMID: 24344921
12. These results identified hPNPLA1 and a mutant in HeLa cells. PMID: 24057234
13. 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. PMID: 22246504
14. PNPLA1 exhibited a modest effect on obesity PMID: 19390624
15. Observational study of gene-disease association. (HuGE Navigator) PMID: 19390624
16. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 18414634

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HGNC: 21246

OMIM: 612121

KEGG: hsa:285848

STRING: 9606.ENSP00000378072

UniGene: Hs.407002