NKX3.2 Polyclonal

The homeobox gene NKX3.2 (BAPX1) is the human homolog of Drosophila bagpipe, which determines cell fate in the dorsal mesoderm. In mammalian species, NKX3.2 is a key transcription factor that regulates the development of smooth muscle tissues and skeletal structures. NKX3.2 plays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. It regulates spleen development and the development of the axial skeleton. Defects in NKX3.2 are the cause of spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD). It is a skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphysea ossification centers and wide growth plates in the long tubular bones and numerous pseudoepiphyses of the short tubular bones in hands and feet.