ROR2 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 9q22

Cellular Component: integral to plasma membrane; plasma membrane

Molecular Function: ATP binding; frizzled binding; metal ion binding; protein binding; transmembrane receptor protein tyrosine kinase activity; Wnt-protein binding

Biological Process: BMP signaling pathway; cartilage condensation; cell fate commitment; embryonic digit morphogenesis; embryonic genitalia morphogenesis; inner ear morphogenesis; JNK cascade; multicellular organismal development; negative regulation of cell proliferation; peptidyl-tyrosine phosphorylation; positive regulation of cell migration; positive regulation of transcription, DNA-dependent; signal transduction; smoothened signaling pathway; somitogenesis; transmembrane receptor protein tyrosine kinase signaling pathway; Wnt receptor signaling pathway, calcium modulating pathway; Wnt receptor signaling pathway, planar cell polarity pathway

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