PAX1
Reactivity: Human
WB, ELISA
Host: Rabbit
Polyclonal
unconjugated
Application Notes
Western blot: 1: 500 - 1: 1000. Immunohistochemistry on paraffin sections: 1: 50 - 1: 200. Other applications not tested. Optimal dilutions are dependent on conditions and should be determined by the user.
Pax genes contain paired domains with strong homology to genes in Drosophila that are involved in programming early development. 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. The gene which encodes Pax-1 maps to human chromosome 20p11.2.Synonyms: HUP48, Paired box protein Pax-1, Pax-1