Pax-1 (T367) polyclonal antibody

Pax-1 is a sequence-specific DNA binding-protein with transcriptional activating properties. The expression pattern of Pax-1 during mouse embryogenesis indicates that it may play an important role in the development of the vertebral column. The autosomal recessive mutation ‘undulated’ (un) in the mouse exhibits vertebral anomalies along the entire rostrocaudal axis and is associated with a point mutation (G-to-A transition) at position 15 leading to a gly-to-ser replacement in a highly conserved region of the paired box of Pax-1. Pax-1 is required for the normal development of these three skeletal elements: the vertebral column, sternum, and scapula. Mice who are doubly heterozygous for the mutants ‘undulated’ and ‘Patch’ have a phenotype reminiscent of an extreme form of spina bifida occulta in humans.