LIMS3L
LIMS3: A Calcium-Binding Protein with Diverse Roles in Human Health
Description
LIMS3 is a calcium-binding protein that plays a crucial role in various cellular processes, including cell growth, differentiation, and apoptosis. It is encoded by the LIMS3 gene located on chromosome 11p15.1. LIMS3 is predominantly expressed in the brain, heart, and skeletal muscle tissues.
Associated Diseases
Mutations in the LIMS3 gene have been linked to a range of diseases, including:
- LIMS3 deficiency syndrome: A rare autosomal recessive disorder characterized by intellectual disability, developmental delay, and seizures.
- Myotonic dystrophy type 2 (DM2): A neuromuscular disease characterized by progressive muscle weakness and wasting.
- Dilated cardiomyopathy: A condition characterized by an enlarged and weakened heart muscle.
- Breast cancer: LIMS3 has been implicated in the development and progression of breast cancer.
Did you Know ?
LIMS3 deficiency syndrome affects approximately 1 in 100,000 individuals worldwide, making it a rare genetic disorder.
