| Modification Notes |
Roof plate-specific Spondins (R-Spondins) are secreted proteins that possess a Furin-like cysteine-rich domain and are involved in regulating ∫-catenin function. R-Spondin2, also known as RSPO2 or CRISTIN2, is a 243 amino acid secreted protein that contains one FU repeat and one TSP type-1 domain. Existing as multiple alternatively spliced isoforms, R-Spondin2 interacts with Wnt-1 and functions to activate the ∫-catenin signaling cascade, ultimately leading to TCF-dependent gene activation. Additionally, R-Spondin2 is thought to act as a ligand for LRP and frizzled receptors. The gene encoding R-Spondin2 maps to human chromosome 8, which encodes over 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that maps to chromosome 8. |