Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.

ABSTRACT: FAM20C (family with sequence similarity 20, member C) is a serine/threonine-specific protein kinase that is ubiquitously expressed and mainly associated with biomineralization and phosphatemia regulation. It is mostly known due to pathogenic variants causing its deficiency, which results in Raine syndrome (RNS), a sclerosing bone dysplasia with hypophosphatemia. The phenotype is recognized by the skeletal features, which are related to hypophosphorylation of different FAM20C bone-target proteins. However, FAM20C has many targets, including brain proteins and the cerebrospinal fluid phosphoproteome. Individuals with RNS can have developmental delay, intellectual disability, seizures, and structural brain defects, but little is known about FAM20C brain-target-protein dysregulation or about a

SUBMITTER: Palma-Lara I 

PROVIDER: S-EPMC10219294 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature