Recombinant Human Protein-serine O-palmitoleoyltransferase porcupine (PORCN), partial

1. Case Report: mosaicism for PORCN mutations in focal dermal hypoplasia (Goltz Syndrome). PMID: 28293688
2. Data suggest that PORCN exhibits substrate specificity that includes a Wnt3a peptide fragment (residues 199-219, with disulfide bonds); recombinant PORCN containing a point mutation (R228C) associated with focal dermal hypoplasia exhibits impaired acylation activity toward Wnt3a peptide fragment. (PORCN = porcupine O-acyltransferase; Wnt3a = Wnt family member 3A) PMID: 28655768
3. Inhibition of Wnt signaling by PORCN inhibition holds promise as differentiation therapy in genetically defined human cancers PMID: 26257057
4. porcupine-mediated production of Wnts is context dependent and is not required for all Wnts production, suggesting that alternative mechanisms exist for Wnts production. PMID: 24647048
5. We describe the first case of non-mosaic males affected with syndromic microphthalmia because of a non-synonymous variant in the PORCN gene. PMID: 25026905
6. the Wnt amino acid residues required for recognition and palmitoylation by PORCN PMID: 25451226
7. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN. PMID: 24698628
8. a novel variant in the PORCN gene (c.1250T>C:p.F417S) in the focal dermal hypoplasia with spinal anomaly PMID: 23696273
9. We report a typical focal dermal hypoplasia (FDH) patient with a recurrent PORCN mutation, which was previously identified, and a second female, with an almost unilateral FDH and a novel postzygotic PORCN mutation. PMID: 23399492
10. To the best of our knowledge, this is the second case report that reveals a mutation of the PORCN gene in a patient with almost unilateral focal dermal hypoplasia. PMID: 22735390
11. PORCN protein thus appears to moonlight in a novel signaling pathway that is rate-limiting for cancer cell growth and tumorigenesis independent of its enzymatic function in Wnt biosynthesis and secretion PMID: 22509316
12. review of the published mutations in the PORCN gene and report on 7 new mutations identified in Goltz-Gorlin syndrome patients PMID: 21472892
13. 12 novel PORCN mutations and 6 previously reported mutations were found in 53 unrelated focal dermal hypoplasia patients. PMID: 20854095
14. Porcupine might contribute to non-small cell lung carcinoma development by ranscriptional activation of cancer-related genes such as s100P. PMID: 20198348
15. Three de novo mutations were identified in PORCN gene in patients with focal dermal hypoplasia. PMID: 19863546
16. Sequence deletions and point mutations cause focal dermal hypoplasia. PMID: 17546030
17. PORCN, encoding a putative O-acyltransferase potentially crucial for cellular export of Wnt signaling proteins, is the gene mutated in focal dermal hypoplasia. PMID: 17546031
18. Overexpression of PORCN is associated with lung cancer PMID: 18193088
19. 3 novel mutations in PORCN, c.373+1G>A, c.737_738insA & c.1094G>A (p.R365Q), were identified in focal dermal hypoplasia patients(FDH); study shows PORCN is gene responsible for FDH in different populations & extends number of confirmed mutations to 26 PMID: 18325042
20. defective PORCN does not lead to selective growth disadvantage PMID: 19277062
21. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. PMID: 19309688
22. Mutations within the PORCN gene are associated with Goltz-Gorlin syndrome. PMID: 19586929
23. Focal dermal hypoplasia illustrates the phenotypic consequences of defective modulation of Wnt signaling in utero and highlights the important roles of PORCN and Wnt signaling pathways in embryogenesis. PMID: 19681149

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HGNC: 17652

OMIM: 300651

KEGG: hsa:64840

STRING: 9606.ENSP00000322304

UniGene: Hs.386453