This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017] CIViC Summary for MYC Gene
Forensic Context
A study in mice demonstrated that the MYC is a downstream target of cyclin-dependent kinase 9 (Cdk9), where its mRNA expression was significantly decreased following Cdk9 knockdown in cardiomyocytes, linking it to pathways regulating cell survival under hypoxic stress [Xue et al. DOI:10.1161/JAHA.122.026160]. In human corpus cavernosum tissue, single-cell transcriptome analysis identified the MYC as a WNT/β-catenin pathway target, with its expression significantly higher in the fibroblast subcluster FB1 from patients with organic erectile dysfunction, indicating its role in pathological fibrotic signaling [Zhao et al. DOI:10.1038/s41467-022-31950-9].