Aliases for KAZALD1 Gene
- Kazal Type Serine Peptidase Inhibitor Domain 1 2 3 5
- Novel Kazal-Type Serine Protease Inhibitor Domain And Immunoglobulin Domain Containing Protein 3
- Kazal-Type Serine Protease Inhibitor Domain-Containing Protein 1 3
- Kazal-Type Serine Peptidase Inhibitor Domain 1 2
- Kazal-Type Serine Protease Inhibitor Domain 1 2
- Bone- And Odontoblast-Expressed Gene 1 3
External Ids for KAZALD1 Gene
Previous GeneCards Identifiers for KAZALD1 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]
GeneCards Summary for KAZALD1 Gene
KAZALD1 (Kazal Type Serine Peptidase Inhibitor Domain 1) is a Protein Coding gene. Diseases associated with KAZALD1 include Lobar Holoprosencephaly and Retinitis Pigmentosa 10. GO annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is IGFBP7.
UniProtKB/Swiss-Prot for KAZALD1 Gene
Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly (By similarity).