PLS1
Function
Actin-bundling protein. In the inner ear, it is required for stereocilia formation. Mediates liquid packing of actin filaments that is necessary for stereocilia to grow to their proper dimensions.
Involvement in disease
Deafness, autosomal dominant, 76
DFNA76
A form of non-syndromic deafness characterized by mild to profound sensorineural hearing loss and variable age at onset. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated.
Tissue Specificity
In small intestine, colon, and kidney; relatively lower levels of expression are detected in the lung and stomach.
Cellular localization
- Cytoplasm
- Cell projection
- Stereocilium
Alternative names
Plastin-1, Intestine-specific plastin, I-plastin, PLS1