COLCA2
Colca2: A Gene with a Multifaceted Role in Health and Disease
Description
Colca2 (Coiled-Coil Domain Containing 2) is a gene that encodes a protein involved in cellular processes crucial for maintaining tissue integrity and function. It is expressed in various tissues throughout the body, including the heart, skeletal muscle, brain, and skin.
Associated Diseases
Mutations in the Colca2 gene have been linked to several diseases, including:
- Cardiomyopathy: Colca2 mutations can disrupt cardiac muscle function, leading to dilated cardiomyopathy (DCM), a condition characterized by weakened heart muscle and impaired pumping ability.
- Muscular Dystrophy: Colca2 mutations can cause muscle degeneration and weakness, resulting in Emery-Dreifuss muscular dystrophy (EDMD), a progressive neuromuscular disorder affecting skeletal muscles.
- Skin Conditions: Mutations in Colca2 have been associated with skin fragility and blistering, including junctional epidermolysis bullosa (JEB), a rare genetic disorder characterized by severe skin fragility.
Did you Know ?
Approximately 1 in 5,000 individuals worldwide is estimated to carry a mutation in the Colca2 gene.
