Health Dictionary
Reliable, easy-to-read patient information on common medical conditions β written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
PORCN
Introduction
PORCN (porcupine homolog β Drosophila) is a human gene.[1][2] The protein is homologous to other membrane-bound O-acyltransferases.
Function
Function
The protein encoded by this gene is an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins such as WNT7A.[2]
Clinical significance
Clinical significance
Mutations in this gene are associated with focal dermal hypoplasia.[3]
Mutations in PORCN are associated to Goltz-Gorlin syndrome .[4]
Ligands
Ligands
Inhibitors
- WNT974 (LGK-974) – 1243244-14-5, researched for anti-cancer effects in Wnt-pathway sensitive tumours.[5] Also investigated for influencing cardiac tissue remodelling following infarction.[6]
IWP (1-4)
RXC004
References
References
- β Tanaka K, Okabayashi K, Asashima M, Perrimon N, Kadowaki T (July 2000). “The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family”. European Journal of Biochemistry. 267 (13): 4300β11. doi:10.1046/j.1432-1033.2000.01478.x. PMIDΒ 10866835.
- β 2.0 2.1 Caricasole A, Ferraro T, Rimland JM, Terstappen GC (April 2002). “Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine”. Gene. 288 (1β2): 147β57. doi:10.1016/S0378-1119(02)00467-5. PMIDΒ 12034504.
- β Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al. (July 2007). “Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia”. Nat. Genet. 39 (7): 836β8. doi:10.1038/ng2057. PMIDΒ 17546030.
- β Brady PD, Van Esch H, Fieremans N, Froyen G, Slavotinek A, Deprest J, Devriendt K, Vermeesch JR (April 2015). “Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia”. European Journal of Human GeneticsΒ : EJHG. 23 (4): 551β4. doi:10.1038/ejhg.2014.135. PMCΒ 4666577. PMIDΒ 25026905.
- β Boone JD, Arend RC, Johnston BE, Cooper SJ, Gilchrist SA, Oelschlager DK, Grizzle WE, McGwin G Jr, Gangrade A, Straughn JM Jr, Buchsbaum DJ (Feb 2016). “Targeting the Wnt/Ξ²-catenin pathway in primary ovarian cancer with the porcupine inhibitor WNT974”. Lab Invest. 96 (2): 249β59. doi:10.1038/labinvest.2015.150. PMIDΒ 26658453.
- β Moon J, et al. (2017). “Blockade to Pathological Remodeling of Infarcted Heart Tissue Using a Porcupine Antagonist”. Proc Natl Acad Sci U S A. 114: 1649β1654. doi:10.1073/pnas.1621346114. PMCΒ 5320972. PMIDΒ 28143939.