AI Article Synopsis

  • FAM20C is an important protein kinase involved in bone development and phosphate regulation, and its deficiency leads to Raine syndrome (RNS), characterized by bone abnormalities and low phosphate levels.
  • RNS can cause various neurological issues, including developmental delays and seizures, but little is understood about how FAM20C affects brain proteins.
  • A study utilized various databases to analyze FAM20C targets, revealing that genes highly expressed in the brain are linked to cholesterol transport and neuronal functions, which may provide insights into the neurologic features of RNS.

Article 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 potential pathogenesis associated with neurologic features. In order to identify the potential FAM20C actions on the brain, an in silico analysis was conducted. Structural and functional defects reported in RNS were described; FAM20C targets and interactors were identified, including their brain expression. Gene ontology of molecular processes, function, and components was completed for these targets, as well as for potential involved signaling pathways and diseases. The BioGRID and Human Protein Atlas databases, the Gorilla tool, and the PANTHER and DisGeNET databases were used. Results show that genes with high expression in the brain are involved in cholesterol and lipoprotein processes, plus axo-dendritic transport and the neuron part. These results could highlight some proteins involved in the neurologic pathogenesis of RNS.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219294PMC
http://dx.doi.org/10.3390/ijms24108904DOI Listing

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