| Modification Notes |
PORCN (Probable protein-cysteine N-palmitoyltransferase porcupine), also known as MG61, PORC, PPN, por, DHOF or FODH, is a 461 amino acid multi-pass membrane protein that localizes to the endoplasmic reticulum. Expressed as four isoforms that are found in a variety of tissues, including brain, testis, heart, skeletal muscle, spinal cord and lung, PORCN functions to modulate the processing of Wnt proteins. Specifically, PORCN interacts with Wnt-1, Wnt-3, Wnt-4 and Wnt-6 and acts as a protein-cysteine N-palmitoyltransferase that palmitoylates target Wnt proteins. Defects in the gene encoding PORCN are associated with focal dermal hypoplasia (FDH) (also known as Goltz syndrome), an X-linked disorder characterized by improper ectodermal and mesodermal tissue development. |