ACTG1 : actin gamma 1
The ACTG1 Gene: Encoding a Crucial Protein for Cell Structure and Function
Description
The ACTG1 gene provides the blueprint for creating a protein known as gamma (γ)-actin. This protein belongs to the actin protein family, which forms a network of fibers called the actin cytoskeleton. The cytoskeleton serves as the structural framework within cells, maintaining their shape and enabling movement.
There are six types of actin, with four found exclusively in muscle cells and involved in muscle contraction. γ-actin, along with beta (β)-actin (produced by the ACTB gene), is present in cells throughout the body. These proteins play a crucial role in determining cell shape and controlling cell movement (motility).
Associated Diseases
Mutations in the ACTG1 gene can lead to several health conditions, including:
- Distal spinal muscular atrophy (dSMA): A genetic disorder affecting infants and young children, characterized by progressive muscle weakness and atrophy in the lower limbs.
- Deafness: Mutations in ACTG1 can cause hearing loss, particularly in the high-frequency range, due to abnormal development of hair cells in the inner ear.
- Nail-patella syndrome: A rare disorder involving nail abnormalities, absent or underdeveloped kneecaps, and joint pain.
Did you Know ?
Approximately 1 in 50,000 individuals are affected by dSMA, caused by mutations in the ACTG1 gene.
