PAX3 is a member of the paired box (PAX) family of transcription factors. It is a critical factor for the proper formation of the mammalian nervous, cardiovascular, and muscular systems.
Mutations in Pax3 resulting in complete loss of function have provided important models for the study of neural tube defects, congenital cardiac diseases affecting the outflow tract of the heart, and for the elucidation of the genetic pathways regulating myogenesis. In humans, haploinsufficiency of PAX3 results in deafness, pigmentation defects, and other neural crest-related abnormalities as well as variable-limb myopathy.
Note: This antibody is expected to recognise all 7 reported human isoforms (as represented by NP_000429.2; NP_039230.1; NP_852122.1;.1 NP_852123.1; NP_852124.1; NP_852125.1 and NP_852126.1).
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