KAZALD1, Official Symbol KAZALD1provided by HGNC Official Full Name Kazal type serine peptidase inhibitor domain 1provided by HGNC Primary source HGNC:HGNC:25460 See related Ensembl:ENSG00000107821 MIM:609208; AllianceGenome:HGNC:25460 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BONO1; FKSG28; FKSG40; IGFBP-rP10 Summary 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] Expression Broad expression in spleen (RPKM 7.9), stomach (RPKM 5.2) and 17 other tissues See more Orthologs mouse all