PORCN

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porcupine homolog (Drosophila)
Identifiers
Symbol	PORCN
Entrez	64840
HUGO	17652
OMIM	300651
RefSeq	NM_022825
UniProt	Q9H237
Other data
Locus	Chr. X p11.23

PORCN (porcupine homolog – Drosophila) is a human gene.^[1]^[2]

Function

The protein encoded by this gene an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins such as WNT7A.^[2]

Mutations in this gene are associated with focal dermal hypoplasia.^[3]

↑ Tanaka K, Okabayashi K, Asashima M, Perrimon N, Kadowaki T (2000). "The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family". Eur. J. Biochem. 267 (13): 4300–11. doi:10.1046/j.1432-1033.2000.01478.x. PMID 10866835. Unknown parameter |month= ignored (help)
↑ ^2.0 ^2.1 Caricasole A, Ferraro T, Rimland JM, Terstappen GC (2002). "Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine". Gene. 288 (1–2): 147–57. doi:10.1016/S0378-1119(02)00467-5. PMID 12034504. Unknown parameter |month= ignored (help)
↑ Wang X, Reid Sutton V, Omar Peraza-Llanes J; et al. (2007). "Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia". Nat. Genet. 39 (7): 836–8. doi:10.1038/ng2057. PMID 17546030. Unknown parameter |month= ignored (help)