Full name: paired box 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HUP48; OFC2

Summary: 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]

Expression: Low expression observed in reference dataset

Gene size: 12818bp

Exon count: 5