Synonym(s)
Porcupine Homologue (Drosophila)
DefinitionThis section has been translated automatically.
The PORCN gene belongs to the highly conserved "porcupine (PORC) gene family". Genes of the porcupine family encode proteins of the endoplasmic reticulum. PORCN mutations (>100 have now been detected) lead to the multisystemic disease of Goltz-Gorlin syndrome .
LiteratureThis section has been translated automatically.
- Bostwick B et al (2016) Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. On J Med Genet C Semin Med Genet 172C:9-20.
- Bree AF et al (2016) Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). On J Med Genet C Semin Med Genet 172C:44-51.