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Gene Symbol AXIN1
Synonyms AXIN | CMDOH | PPP1R49
Gene Description AXIN1, axin 1, axis inhibition protein 1 is a scaffold protein that regulates the Wnt signaling pathway and also Tp53, Myc, Tgfbeta, and Jun pathways (PMID: 30166345). Germline variations in AXIN1 have been associated with ovarian (PMID: 30929455), bladder (PMID: 31143301), kidney (PMID: 29053018), and colorectal cancers (PMID: 25236910) and loss of Axin1 function leads to increased cellular beta-catenin (CTNNB1), potentially promoting cell proliferation (PMID: 10700176).
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