PORCN gene

The PORCN gene (PORCN stands for: Porcupine O-Acyltransferase) is a protein coding gene located on chromosome Xp11.23. An important paralog of this gene is MBOAT1.

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 multisystem disease

of Goltz syndrome.

An association with angioma serpiginosum is being discussed (Fernandez-Flores A et al. 2022; Tewari A et al. 2019).

1. Bostwick B et al. (2016) Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet 172C:9-20.
2. Bree AF et al. (2016) Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet 172C:44-51.
3. Fernandez-Flores A et al. (2022) Angioma-serpiginosum-like and hyperkeratotic lesions in a patient with Goltz syndrome. J Cutan Pathol 49:993-997.
4. Tewari A et al. (2019) Postzygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum. Br J Dermatol 181:613-614.