PORCN (porcupine homolog – Drosophila) is a human
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
encoded by this gene is an
endoplasmic reticulum
The endoplasmic reticulum (ER) is a part of a transportation system of the eukaryote, eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for ...
transmembrane protein involved in processing of
wingless proteins such as
WNT7A
Protein Wnt-7a is a protein that in humans is encoded by the ''WNT7A'' gene.
Function
The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and ...
. It performs O-
Palmitoleoylation of these proteins.
Clinical significance
Mutations in this gene are associated with
focal dermal hypoplasia
Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink ...
.
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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