The PAX7 gene encodes a member of the paired box family of transcription factors. While PAX7 is yet to be fully characterized, studies on its lower ortholog genes have helped elucidate its function. The protein is hence believed to play a key role in muscle tissue morphogenesis by regulating the proliferation of myoblast cells. This is mainly done by positively regulating histone methylation at target sites. Importantly, PAX7 only plays a role in the early developmental stages when progenitor cells make the transition into quiescence, and the protein is not found to have any effect on the proliferation of muscle precursor cells in adult muscles. Several additional isoforms of the PAX7 protein exist due to alternatively spliced transcript variants. The gene is found to be overexpressed in the skeletal muscle and brain.

Translocations have been found to occur that fuse PAX7 with the Forkhead in Rhabdomyosarcoma (FKHR) gene, resulting in a PAX7/FKHR fusion gene encoding chimeric transcription factors. This fusion gene has been associated with Alveolar Rhabdomyosarcoma, a malignant soft tissue tumor commonly affecting children and adolescents.