| UniProt Protein Function: | PORCN: protein-cysteine N-palmitoyltransferase that modulates the processing of Wnt proteins by mediating serine palmitoylation of Wnt family members. Defects in PORCN are the cause of focal dermal hypoplasia (FODH); also known as Goltz Gorlin syndrome. A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present. Belongs to the membrane-bound acyltransferase family. Porcupine subfamily. 4 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:EC 2.3.1.-; Endoplasmic reticulum; Membrane protein, integral; Membrane protein, multi-pass; Transferase Chromosomal Location of Human Ortholog: Xp11.23 Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane Biological Process: protein amino acid lipidation; protein palmitoleylation; Wnt receptor signaling pathway Disease: Focal Dermal Hypoplasia |
| NCBI Summary: | This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013] |
| UniProt Code: | Q9H237 |
| NCBI GenInfo Identifier: | 116242723 |
| NCBI Gene ID: | 64840 |
| NCBI Accession: | Q9H237.2 |
| UniProt Secondary Accession: | Q9H237,Q14829, Q9H234, Q9H235, Q9H236, Q9UJU7, B2RBN8 B7ZAR3, |
| UniProt Related Accession: | Q9H237 |
| Molecular Weight: | 52kDa |
| NCBI Full Name: | Protein-serine O-palmitoleoyltransferase porcupine |
| NCBI Synonym Full Names: | porcupine O-acyltransferase |
| NCBI Official Symbol: | PORCN |
| NCBI Official Synonym Symbols: | PPN; DHOF; FODH; MG61; PORC |
| NCBI Protein Information: | protein-serine O-palmitoleoyltransferase porcupine |
| UniProt Protein Name: | Protein-serine O-palmitoleoyltransferase porcupine |
| UniProt Synonym Protein Names: | Protein MG61 |
| UniProt Gene Name: | PORCN |
