Paired Box Protein Pax-1 (PAX1) Antibody

Background

PAX1 is a transcription factor that belongs to the paired box (PAX) family, which regulates embryonic development and tissue differentiation. PAX1 is essential for skeletal development, particularly in vertebral column formation, where it controls the proliferation and differentiation of mesodermal cells into sclerotome-derived structures. It binds DNA through its paired domain and activates the transcription of genes involved in chondrogenesis and axial skeletal patterning. Mutations or deletions in PAX1 are associated with congenital vertebral anomalies and conditions such as oto-spondylo-megaepiphyseal dysplasia (OSMED), characterized by skeletal abnormalities and hearing loss. PAX1 is also expressed in thymic epithelial cells, where it may contribute to thymus development and T cell maturation. Loss-of-function studies in mice reveal vertebral malformations, impaired cartilage differentiation, and developmental defects, underscoring PAX1's role in skeletal morphogenesis, chondrogenesis, and embryonic tissue development.