KBTBD4 - Gene Detail

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Gene Symbol KBTBD4
Synonyms BKLHD4 | HSPC252
Gene Description KBTBD4, kelch repeat and BTB domain containing 4, is the substrate receptor for the Cullin3-dependent E3 ligase complex (PMID: 40479062) that mediates the degradation of CoREST (PMID: 33417871) and MYC (PMID: 38207291), and is involved in hematopoietic cell development (PMID: 33417871, PMID: 38207291). KBTBD4 in-frame insertions have been identified in pineal tumors (PMID: 37855103, PMID: 30877433) and medulloblastoma (PMID: 35379950, PMID: 33172502).
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