{"symbol":"PAX1","synonyms":["HUP48","OFC2"],"name":"paired box 1","description":"This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]","ncbiEntrezGeneId":5075,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5075","proteins":[{"symbol":"PAX1_HUMAN","href":"/api/1.0/protein/PAX1_HUMAN"}],"hgncRootFamilies":[{"name":"Paired boxes (PAX)","href":"/api/1.0/gene_family/Paired+boxes+%28PAX%29"}]}