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Background
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The HSPBAP1 gene covers 54.67 kb. The gene contains 13 confirmed introns, 12 of which are alternative. In the t(2;3)(q35;q21) translocation, HSPBAP1 was found to be fused to DIRC3. he protein encodes a set of transcription factor jumonji, jmjC family members. The Transcription factor jumonji, jmjC motif, is found in 2 isoforms from this gene. Jumonji protein is required for neural tube formation in mice.There is evidence of domain swapping within the jumonji family of transcription factors. This domain is often associated with jmjN.
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Background
References
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