PAX1
Description
The PAX1 (paired box 1) is a protein-coding gene located on chromosome 20.
PAX1, encoded by the PAX1 gene, is a transcription factor belonging to the Paired box (PAX) family, crucial for embryonic development. It plays a vital role in the formation of the ventral vertebral column, with expression concentrated in the pharyngeal pouches and cells surrounding developing vertebrae, contributing to neck and shoulder development. Its role in tumor suppression is evidenced by its silencing through methylation in cancers like ovarian and cervical cancer, potentially inhibiting tumor growth by regulating cell division. Mutations in PAX1 are linked to Klippel–Feil syndrome, a condition characterized by vertebral segmentation defects, resulting in a short, immobile neck and low hairline. PAX1 interacts with MEOX1 and MEOX2.
PAX1 is also known as HUP48, OFC2, OTFCS2.
