- PORCN
protein
name=porcupine homolog (Drosophila)
caption=
width=
HGNCid=17652
Symbol=PORCN
AltSymbols=
EntrezGene=64840
OMIM= 300651
RefSeq=NM_022825
UniProt= Q9H237
PDB=
ECnumber=
Chromosome=X
Arm=p
Band=11.23
LocusSupplementaryData=PORCN (porcupine homolog – Drosophila) is a human
gene .cite journal | author = 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 = Eur. J. Biochem. | volume = 267 | issue = 13 | pages = 4300–11 | year = 2000 | month = July | pmid = 10866835 | doi = 10.1046/j.1432-1033.2000.01478.x | url = | issn = ] cite journal | author = 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 | year = 2002 | month = April | pmid = 12034504 | doi = 10.1016/S0378-1119(02)00467-5 | url = | issn = ]Function
The
protein encoded by this gene anendoplasmic reticulum transmembrane protein involved in processing of wingless proteins such asWNT7A .Disease linkage
Mutations in this gene are associated with
focal dermal hypoplasia .cite journal |author=Wang X, Reid Sutton V, Omar Peraza-Llanes J, "et al" |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 |year=2007 |month=July |pmid=17546030 |doi=10.1038/ng2057 |url=http://dx.doi.org/10.1038/ng2057]References
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