KAZALD1 - Kazal type serine peptidase inhibitor domain 1 Gene

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]