ACTA1 : actin alpha 1, skeletal muscle

Description of ACTA1 Gene

The ACTA1 gene, located on chromosome 1, holds the blueprint for the skeletal alpha (α)-actin protein. This protein belongs to the actin family, renowned for its vital role in cell movement, muscle contraction, and maintaining the cytoskeleton, the inner scaffolding that shapes and organizes cells.

Associated Diseases

Mutations in the ACTA1 gene can lead to several inherited conditions, including:

• Nemaline Myopathy: A muscle disorder characterized by muscle weakness and hypotonia (low muscle tone).
• Distal Arthrogryposis Type 5: A congenital condition that presents with joint stiffness and muscle deformities in the hands and feet.
• Thyrotoxic Periodic Paralysis: A rare disorder where temporary muscle paralysis occurs during periods of hyperthyroidism (elevated thyroid hormone levels).

Did you Know ?

Skeletal α-actin comprises approximately 60% of the total actin found in skeletal muscles, highlighting its significance in muscle function.