paired box 7
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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, Sep 2008]
Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.
From NCBI Gene:
- Alveolar rhabdomyosarcoma (disease)
- MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS
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. [MIM:268220]
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. [MIM:618578]