PAX7

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Pax7

Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.

Anatomical structure developmentManual Assertion Based On ExperimentIBA:GO_Central
Anatomical structure morphogenesisManual Assertion Based On ExperimentTAS:ProtInc
Muscle organ developmentIEA:UniProtKB-KW
Negative regulation of apoptotic processManual Assertion Based On ExperimentTAS:ProtInc
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Nucleus

Rhabdomyosarcoma 2 (RMS2):
A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
Myopathy, congenital, progressive, with scoliosis (MYOSCO):
An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe.