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Official Full Name: PBX homeobox 1
Also known as: CAKUHED
The nucleoprotein encoded by this gene belongs to the PBX homeobox transcription factor family. Studies in mice suggest that the gene may be involved in the regulation of bone formation and is required for bone patterning and programming. A chromosomal translocation t(1;19) involving this gene and the TCF3/E2A gene is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA-binding domain of E2A is replaced by that of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternative splice transcript variants of this gene have been found to encode distinct isoforms.