Porcn gene

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Porcupine Homologue (Drosophila)

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

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.

  1. 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.
  2. Bree AF et al (2016) Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). On J Med Genet C Semin Med Genet 172C:44-51.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer