Johanson-Blizzard Syndrome

About the Disease
Johanson-Blizzard Syndrome, also known as jbs, is related to exocrine pancreatic insufficiency and jacobsen syndrome. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Protein ubiquitination. Affiliated tissues include pancreas, skin and liver, and related phenotypes are failure to thrive and malabsorption

Common Targets
UBR5 | UBR1

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