CAPZA3
Capza3: A Comprehensive Guide
Description
Capza3, also known as capping protein zeta subunit 3, is a protein encoded by the CAPZA3 gene in humans. It is a key regulator of the actin cytoskeleton, a complex network of proteins that provides structural support to cells and plays a crucial role in cell movement, division, and morphogenesis. Capza3 is involved in capping the barbed ends of actin filaments, which prevents their further polymerization and disassembly.
Associated Diseases
Mutations in the CAPZA3 gene have been linked to several genetic disorders, including:
- Cap Myopathy: This rare genetic muscle disorder is characterized by muscle weakness, impaired mobility, and contractures.
- Infantile Onset Spinocerebellar Ataxia (SCA36): A neurodegenerative disease that affects the cerebellum and spinal cord, leading to difficulties with coordination, balance, and speech.
- Intellectual Disability with Speech Delay and Dysmorphism: A genetic condition characterized by intellectual disability, delayed speech development, and distinctive facial features.
Did you Know ?
Approximately 1 in 1 million people are affected by cap myopathy, making it an extremely rare genetic disorder. This highlights the importance of understanding the role of CAPZA3 in human health.
