PORCN
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{infobox gene}}
PORCN (porcupine homolog – Drosophila) is a human gene.{{cite journal | vauthors = Tanaka K, Okabayashi K, Asashima M, Perrimon N, Kadowaki T | title = The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family | journal = European Journal of Biochemistry | volume = 267 | issue = 13 | pages = 4300–11 | date = July 2000 | pmid = 10866835 | doi = 10.1046/j.1432-1033.2000.01478.x }}{{cite journal |vauthors=Caricasole A, Ferraro T, Rimland JM, Terstappen GC | title = Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine | journal = Gene | volume = 288 | issue = 1–2 | pages = 147–57 |date=April 2002 | pmid = 12034504 | doi = 10.1016/S0378-1119(02)00467-5 }}
The protein is homologous to other membrane-bound O-acyltransferases.
Function
The protein encoded by this gene is an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins such as WNT7A. It performs O-Palmitoleoylation of these proteins.
Clinical significance
Mutations in this gene are associated with focal dermal hypoplasia.{{cite journal |vauthors=Wang X, Reid Sutton V, Omar Peraza-Llanes J, etal |title=Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia |journal=Nat. Genet. |volume=39 |issue=7 |pages=836–8 |date=July 2007 |pmid=17546030 |doi=10.1038/ng2057|s2cid=3184143 }}
Mutations in PORCN are associated to Goltz-Gorlin syndrome.{{cite journal | vauthors = Brady PD, Van Esch H, Fieremans N, Froyen G, Slavotinek A, Deprest J, Devriendt K, Vermeesch JR | title = Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia | journal = European Journal of Human Genetics | volume = 23 | issue = 4 | pages = 551–4 | date = April 2015 | pmid = 25026905 | pmc = 4666577 | doi = 10.1038/ejhg.2014.135 }}
Ligands
=Inhibitors=
- WNT974 (LGK-974) - 1243244-14-5, researched for anti-cancer effects in Wnt-pathway sensitive tumours.{{cite journal | vauthors = Boone JD, Arend RC, Johnston BE, Cooper SJ, Gilchrist SA, Oelschlager DK, Grizzle WE, McGwin G Jr, Gangrade A, Straughn JM Jr, Buchsbaum DJ | date = Feb 2016 | title = Targeting the Wnt/β-catenin pathway in primary ovarian cancer with the porcupine inhibitor WNT974 | journal = Lab Invest | volume = 96 | issue = 2| pages = 249–59 | doi = 10.1038/labinvest.2015.150 | pmid = 26658453 | doi-access = free }} Also investigated for influencing cardiac tissue remodelling following infarction.{{cite journal | vauthors = Moon J et al | year = 2017 | title = Blockade to Pathological Remodeling of Infarcted Heart Tissue Using a Porcupine Antagonist | journal = Proc Natl Acad Sci U S A | volume = 114| issue = 7 | pages = 1649–1654| doi = 10.1073/pnas.1621346114 | pmid = 28143939 | pmc=5320972| bibcode = 2017PNAS..114.1649M | doi-access = free }}
IWP (1-4)
RXC004
References
{{Reflist|35em}}
{{gene-X-stub}}