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PBX1A gene on chromosome 1q23 that encodes a nuclear protein belonging to the PBX homeobox family of transcriptional factors, which regulates osteogenesis and is required for skeletal patterning and programming.
A translocation t(1;19) involving PBX1 and TCF3/E2A is associated with acute pre-B-cell lymphoblastic leukaemia; the resulting fusion protein, in which the DNA-binding domain of E2A is replaced by the PBX1 DNA-binding domain, upregulates gene transcription.
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