HIPK3
HIPK3: A Versatile Kinase with Implications in Disease and Development
Description
HIPK3 is a highly conserved serine/threonine kinase that plays a pivotal role in various cellular processes. It is primarily localized in the nucleus, where it regulates gene expression, cell growth, differentiation, and apoptosis. The HIPK3 gene is located on chromosome 9q22.3 and encodes a protein of approximately 70 kDa.
Associated Diseases
HIPK3 has been implicated in the pathogenesis of several diseases, including:
- Cancer: HIPK3 expression is altered in various cancers, such as breast, lung, and colorectal cancer. Aberrant HIPK3 activity can promote tumor growth, invasion, and metastasis.
- Neurodegenerative diseases: HIPK3 dysfunction contributes to the development of neurodegenerative diseases like Alzheimer's and Parkinson's disease. It regulates neuronal survival and apoptosis, and its dysregulation leads to neuronal loss and cognitive decline.
- Developmental disorders: HIPK3 is essential for proper embryonic development. Mutations in the HIPK3 gene can cause developmental abnormalities, such as microcephaly (small head size) and intellectual disability.
Did you Know ?
- In breast cancer, high HIPK3 expression is associated with a 50% reduction in overall survival compared to patients with low HIPK3 expression.
