Cloned (Comment) | Organism |
---|---|
gene PORCN, DNA and amino acid sequence determination and analysis, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | identification of enzyme mutants with a 219-kb deletion in Xp11.23, heterozygous and mosaic mutations in gene PORCN, genotyping, overview | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
endoplasmic reticulum | - |
Homo sapiens | 5783 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9H237 | gene PORCN | - |
Synonyms | Comment | Organism |
---|---|---|
PORCN | - |
Homo sapiens |
protein-serine O-palmitoleoyltransferase porcupine | UniProt | Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | enzyme mutation, with a 219-kb deletion in Xp11.23 in two affected females, causes focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations | Homo sapiens |
physiological function | the enzyme is involved in secretion of Wnt proteins | Homo sapiens |