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ROR2
receptor tyrosine kinase-like orphan receptor 2
ROR2 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.
| Gene Name: | receptor tyrosine kinase-like orphan receptor 2 |
| Family/Subfamily: | Protein Kinase , Trk/Ror |
| Synonyms: | ROR2, BDB1, Robinow syndrome, NTRKR2, BDB, Brachydactyly type B |
| Target Sequences: | NM_004560 NP_004551.2 Q01974 |
Publications (3)
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