The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 35 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus.
Expressed at highest levels in cartilage, bone (osteosarcoma) and gut (small intestine and colon), whereas moderate expression is seen in trachea and brain. Expressed in visceral mesoderm and embryonic skeleton.
Involvement in disease
Defects in NKX3-2 are the cause of spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) [MIM:613330]. 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.
Belongs to the NK-3 homeobox family. Contains 1 homeobox DNA-binding domain.