PLCE1
Description
The PLCE1 gene encodes phospholipase C epsilon 1, an enzyme crucial for cellular signaling pathways. It plays a pivotal role in hydrolyzing phosphatidylinositol 4,5-bisphosphate (PIP2), generating diacylglycerol (DAG) and inositol trisphosphate (IP3). These second messengers trigger downstream signaling cascades involved in diverse cellular processes, including cell growth, proliferation, and differentiation. PLCE1 mutations can disrupt these pathways, leading to various disease conditions.
Associated Diseases
- Schizophrenia
- Bipolar Disorder
- Autism Spectrum Disorder
- Intellectual Disability
- Epilepsy
- Cancer (particularly breast and colorectal cancer)
Did you know?
PLCE1 is highly expressed in the brain, suggesting its significant role in neuronal function and development.
