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PAX1 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.
Gene Name: | paired box 1 |
Synonyms: | PAX1, HUP48, Paired box 1, Paired box gene 1, Paired box protein Pax-1, Paired domain gene HuP48 |
Target Sequences: | NM_006192 NP_006183.2 P15863 |
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