Gene: PAX1

Alternate names for this Gene: HUP48|OFC2

Gene 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.22

Description of this Gene: paired box 1

Type of Gene: protein-coding

rs17861031 in PAX1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs540296842 in PAX1 gene and OTOFACIOCERVICAL SYNDROME 2 PMID 23851939 2013 A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.