Symbol PORCN HUGO 17652 RefSeq NM_022825 | Entrez 64840 OMIM 300651 UniProt Q9H237 | |
PORCN (porcupine homolog – Drosophila) is a human gene. The protein is homologous to other membrane-bound O-acyltransferases.
Contents
Function
The protein encoded by this gene an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins such as WNT7A.
Clinical significance
Mutations in this gene are associated with focal dermal hypoplasia.
Mutations in PORCN are associated to Goltz-Gorlin syndrome .
Inhibitors
IWP (1-4)
RXC004
References
PORCN Wikipedia(Text) CC BY-SA