KIF22 Antibody – Mouse Monoclonal

KIF22: Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA. Defects in KIF22 are the cause of spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2). A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood. Belongs to the kinesin-like protein family.

Protein type: Motor; Microtubule-binding

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: nucleoplasm; kinetochore; microtubule; kinesin complex; focal adhesion; cytoplasm; spindle; cytosol; chromatin; nucleus

Molecular Function: DNA binding; microtubule binding; ATPase activity; microtubule motor activity; ATP binding

Biological Process: mitosis; sister chromatid cohesion; antigen processing and presentation of exogenous peptide antigen via MHC class II; DNA repair; blood coagulation; mitotic metaphase plate congression; microtubule-based movement

Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2