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

Chromosomal Location of Human Ortholog: 9q22

Cellular Component: integral to plasma membrane; plasma membrane

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

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

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