GENETIC ENCYCLOPEDIA
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gene: BMI1

id648
symbolBMI1
organismHomo sapiens
full nameBMI1 proto-oncogene, polycomb ring finger
summaryThis gene encodes a ring finger protein that is major component of the polycomb group complex 1 (PRC1). This complex functions through chromatin remodeling as an essential epigenetic repressor of multiple regulatory genes involved in embryonic development and self-renewal in somatic stem cells. This protein also plays a central role in DNA damage repair. This gene is an oncogene and aberrant expression is associated with numerous cancers and is associated with resistance to certain chemotherapies. A pseudogene of this gene is found on chromosome X. Read-through transcription also exists between this gene and the upstream COMM domain containing 3 (COMMD3) gene. [provided by RefSeq, Sep 2015]
variant-disease

GRCh37/hg19 10p12.31-12.2(chr10:22594765-22639707)x3 AND not provided

GRCh37/hg19 10p12.2(chr10:22607432-22637381)x3 AND not provided

GRCh37/hg19 10p12.31-12.2(chr10:22500944-22658281)x3 AND not provided

GRCh37/hg19 10p12.31-12.2(chr10:22594765-22637381)x4 AND not provided

GRCh37/hg19 10p12.2(chr10:22603581-22639707)x1 AND not provided

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