{"symbol":"KAZALD1","synonyms":["BONO1","FKSG28","FKSG40","IGFBP-RP10"],"name":"Kazal-type serine peptidase inhibitor domain 1","description":"This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]","ncbiEntrezGeneId":81621,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/81621","proteins":[{"symbol":"KAZD1_HUMAN","href":"/api/1.0/protein/KAZD1_HUMAN"}],"hgncRootFamilies":[{"name":"Immunoglobulin superfamily domain containing","href":"/api/1.0/gene_family/Immunoglobulin+superfamily+domain+containing"}]}