PAX1
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]
- Chromosome
- 20
- Start
- 21,705,659
- End
- 21,718,481
- Build
- HG19
Associated SNPs 1 / 1 detected
| SNP | Genotype | Ref. allele | Variant allele | Frequency | Status |
|---|---|---|---|---|---|
| rs927833 | CT | C | T | 22.04% | Detected |