PAX1, Official Symbol PAX1provided by HGNC Official Full Name paired box 1provided by HGNC Primary source HGNC:HGNC:8615 See related Ensembl:ENSG00000125813 MIM:167411; AllianceGenome:HGNC:8615 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OFC2; HUP48 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 See more Orthologs mouse all