MDM4 (HDMX, MDMX) gene is located in the q32.1 region of chromosome 1, encoding a protein containing 490 amino acid residues. MDM4 is an important regulator of p53 upstream and plays a major role in apoptosis.
PROBE DESCRIPTION
MDM4 (HDMX, MDMX) gene amplification probe uses an orange-red dye to label MDM4 gene region, and a green dye to label the chromosome 1 centromere region (CEP1). MDM4 (HDMX, MDMX) gene marker region is located at 1q32.1, and the CEP1 probe is labeled with a specific alpha satellite sequence.
CLINICAL SIGNIFICANCE
MDM4 amplification is seen in 65% of primary neuroblastomas, MDM4 is a primary neuroblastoma-specific chemotherapy target, and MDM4 gene amplification patients are not sensitive to chemotherapy.
References
Duhamel LA, et al. (2012) Histopathology 60: 357-9.