FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes

<i>FAM20C</i> is a gene coding for a protein kinase that targets S-X-E/pS motifs on different phosphoproteins belonging to diverse tissues. Pathogenic variants of <i>FAM20C</i> are responsible for Raine syndrome (RS), initially described as a lethal and congenital osteosclero...

Full description

Bibliographic Details
Main Authors: Icela Palma-Lara, Monserrat Pérez-Ramírez, Patricia García Alonso-Themann, Ana María Espinosa-García, Ricardo Godinez-Aguilar, José Bonilla-Delgado, Adolfo López-Ornelas, Georgina Victoria-Acosta, María Guadalupe Olguín-García, José Moreno, Carmen Palacios-Reyes
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:International Journal of Molecular Sciences
Subjects:
pathogenic variants
Raine syndrome
FAM20C targets
Online Access:https://www.mdpi.com/1422-0067/22/15/8039

Internet

https://www.mdpi.com/1422-0067/22/15/8039

Similar Items