NKX3-2 Antibody – Rabbit Polyclonal

NKX3-2: 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. 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. Belongs to the NK-3 homeobox family.

Protein type: Cell development/differentiation; Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: nucleus

Biological Process: spleen development; transcription from RNA polymerase II promoter; organ formation; skeletal morphogenesis; embryonic skeletal development; pancreas development; negative regulation of chondrocyte differentiation; negative regulation of transcription from RNA polymerase II promoter; middle ear morphogenesis; determination of left/right symmetry; skeletal development; negative regulation of apoptosis

Disease: Spondylo-megaepiphyseal-metaphyseal Dysplasia