Characterization of the promoter region of the human IGHMBP2 (Smubp-2) gene and its response to TPA in HL-60 cells.

Immunoglobulin mu-binding protein 2 (IGHMBP2/Smubp-2) is a helicase motif-containing DNA-binding protein that has been suggested to regulate various nuclear functions. Recent studies indicated that mutations in the IGHMBP2 gene are responsible for spinal muscular atrophy with respiratory distress type I (SMARD1). However, the mechanism of regulation of IGHMBP2 gene expression remains unclear.