ROR2 Antibody – Mouse Monoclonal

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. [provided by RefSeq, Jul 2008]

ROR2: a receptor tyrosine kinase of the ROR family. May be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations 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.

Protein type: EC 2.7.10.1; Kinase, protein; Membrane protein, integral; Protein kinase, TK; Protein kinase, tyrosine (receptor); Ror family; TK group

Chromosomal Location of Human Ortholog: 9q22.31

Cellular Component: integral to plasma membrane; plasma membrane

Molecular Function: protein binding; Wnt-protein binding

Biological Process: multicellular organismal development; negative regulation of cell proliferation; positive regulation of cell migration; signal transduction; Wnt receptor signaling pathway, planar cell polarity pathway

Disease: Brachydactyly, Type B1; Robinow Syndrome, Autosomal Recessive