Gene Symbol | PAX7 |
Entrez Gene ID | 5081 |
Full Name | paired box 7 |
Synonyms | HUP1,PAX7B,RMS2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Rhabdomyosarcoma 2, alveolar, 268220 (3) |