Anti-ROR2 Antibody Picoband® Fluoro594 Conjugated

Tyrosine-protein kinase transmembrane receptor ROR2, also known as neurotrophic tyrosine kinase, receptor-related 2, is a protein that in humans is encoded by the ROR2 gene located on position 9 of the long arm of chromosome 9. The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.

1. Afzal, A. R., Jeffery, S. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum. Mutat. 22: 1-11, 2003. 2. Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., Elanko, N., Ternes-Pereira, E., Tuysuz, B., Murday, V. A., Patton, M. A., Wilkie, A. O. M., Jeffery, S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nature Genet. 25: 419-422, 2000. 3. Ali, B. R., Jeffery, S., Patel, N., Tinworth, L. E., Meguid, N., Patton, M. A., Afzal, A. R. Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. Hum. Genet. 122: 389-395, 2007.