2.3.1.250 C187A site-directed mutagenesis, increase in Wnt signaling activity of about 1.5fold upon expression of PORCNC187A compared to wild-type PORCN 734745 2.3.1.250 C375X site-directed mutagenesis, mutations introduced in PORCN at either Cys375, Cys381 or Cys385, all situated on a predicted luminal loop projecting from transmembrane domain VII that contains the catalytic His341 resi­due, have detrimental effects on Wnt3a palmitoylation and signaling that are comparable to that of the catalytically dead H341A mutant 734745 2.3.1.250 C381X site-directed mutagenesis, mutations introduced in PORCN at either Cys375, Cys381 or Cys385, all situated on a predicted luminal loop projecting from transmembrane domain VII that contains the catalytic His341 resi­due, have detrimental effects on Wnt3a palmitoylation and signaling that are comparable to that of the catalytically dead H341A mutant 734745 2.3.1.250 C385X site-directed mutagenesis, mutations introduced in PORCN at either Cys375, Cys381 or Cys385, all situated on a predicted luminal loop projecting from transmembrane domain VII that contains the catalytic His341 resi­due, have detrimental effects on Wnt3a palmitoylation and signaling that are comparable to that of the catalytically dead H341A mutant 734745 2.3.1.250 H341A site-directed mutagenesis, catalytic active site mutant, Wnt signaling inactive mutant 734194 2.3.1.250 H341A site-directed mutagenesis, catalytically inactive mutant 734745 2.3.1.250 H341A site-directed mutagenesis, the mutation reduces Wnt signaling relative to wild-type PORCN 734745 2.3.1.250 H341D site-directed mutagenesis, catalytically inactive mutant 733699 2.3.1.250 H341Q site-directed mutagenesis, catalytically inactive mutant 733699 2.3.1.250 additional information generation of three different deletion mutants of the enzyme lacking residues 1-34, 1-66, or 1-110 (DELTA34, DELTA66, and DELTA110), the mutants show affeced N-glycosylation of Wingless protein, because the mutant enzymes cannot bind to Wingless, overview 733769 2.3.1.250 additional information identification of enzyme mutants with a 219-kb deletion in Xp11.23, heterozygous and mosaic mutations in gene PORCN, genotyping, overview 734754 2.3.1.250 additional information overexpression of HA-tagged human PORC to confirm the ability of hPORC RNAi constructs to knockdown hPORC expression 733699 2.3.1.250 additional information PORCN is deleted by adenoviral Cre-GFP excision in immortalized MEF cells, PORCN null cells cannot activate WNT3A 734194 2.3.1.250 additional information rescue of Drosophila melanogaster porc embryos by Mporc RNA injection 733769 2.3.1.250 additional information rescue of Drosophila porc embryos by Mus musculus Mporc RNA injection 733769 2.3.1.250 additional information the catalytically inactive porcupine is able to act as an inhibitor of endogenous porcupine, possibly via direct competition for substrate 733699 2.3.1.250 additional information the cysteine mutations might be detrimental to the enzyme's tertiary structure and its catalytic activity 734745 2.3.1.250 additional information zinc finger nuclease-mediated PORCN gene deletion in HT1080 cells. Mutation or skipping of PORCN exon 9 creates cells null for PORCN catalytic activity 734194