ACTG1

The ACTG1 gene provides instructions for making a protein called gamma-actin 1, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing action in muscles (muscle contractions). These proteins also help maintain the cytoskeleton, which is the structural framework that determines cell shape and organizes cell contents. Gamma-actin 1 is found in cells throughout the body, but it is particularly abundant in the cytoskeleton of certain cells in the intestines and the inner ear. Within the inner ear, gamma-actin 1 is found in specialized cells called hair cells, which play an important role in the hearing process.

nonsyndromic deafness - caused by mutations in the ACTG1 gene

Researchers have identified several ACTG1 mutations that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNA20. These mutations change one of the protein building blocks (amino acids) used to make gamma-actin 1, which most likely alters the 3-dimensional shape of the protein. The altered protein probably causes hearing loss by impairing the function or survival of hair cells.