Protein-coding gene in the species Homo sapiens
PORCN (porcupine homolog – Drosophila) is a human gene.
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.
Mutations in PORCN are associated to Goltz-Gorlin syndrome.
Ligands.
Inhibitors.
IWP (1-4)
RXC004
References.
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