FAM193B, also known as IRIZIO, was initially identified as a protein that is upregulated in alveolar rhabdomyosarcoma (ARMS), a type of fast-growing tumor characterized by chromosomal translocations fusing the PAX3 or PAX7 gene with that of FOXO1. It has been suggested that, in addition to the PAX3-FOXO1 gene fusion, disruption of the Rb and p53 pathways is required for full ARMS tumorigenesis. In PAX3-FOXO1-expressing primary mouse fibroblasts that possessed a defective p53 pathway, FAM193B expression enabled the tumorigenic transformation, suggesting that FAM193B may contribute to rhabdomyosarcomagenesis in humans.
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