PORCN (porcupine homolog – Drosophila) is a human
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
The protein is homologous to other
membrane-bound O-acyltransferases.
Function
The
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
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
*
WNT974 (LGK-974) - 1243244-14-5, researched for anti-cancer effects in Wnt-pathway sensitive tumours. Also investigated for influencing cardiac tissue remodelling following infarction.
IWP (1-4)
RXC004
References
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