The ACTG1 gene provides instructions for making a protein called gamma (γ)-actin, which is part of the actin protein family. Proteins in this family are organized into a network of fibers called the actin cytoskeleton, which makes up the structural framework inside cells. There are six types of actin; four are present only in muscle cells, where they are involved in the tensing of muscle fibers (muscle contraction). The other two actin proteins, γ-actin and beta (β)-actin (produced from the ACTB gene), are found in cells throughout the body. These proteins play important roles in determining cell shape and controlling cell movement (motility).
γ-actin is particularly abundant in certain cells in the intestines and the inner ear. Within the inner ear, this protein is found in specialized cells called hair cells, which are essential for normal hearing.
Other Names
ACT; ACTG; ACTG_HUMAN; actin, cytoplasmic 2; actin, gamma 1; actin-like protein; cytoskeletal gamma-actin; deafness, autosomal dominant 20; deafness, autosomal dominant 26; DFNA20; DFNA26; gamma-actin
Related Genetics Topics
- Nonsyndromic hearing loss — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
- Baraitser-Winter syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 71
- OMIM: 102560
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
