USH2A : usherin
Description
The USH2A (usherin) is a protein-coding gene located on chromosome 1.
The USH2A gene provides instructions for making a protein called usherin. Usherin is an important component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Usherin is found in basement membranes in the inner ear and in the retina, which is the layer of light-sensitive tissue at the back of the eye. Although the function of usherin has not been well established, studies suggest that it is part of a group of proteins (a protein complex) that plays an important role in the development and maintenance of cells in the inner ear and retina. The protein complex may also be involved in the function of synapses, which are junctions between nerve cells where cell-to-cell communication occurs.
USH2A is also known as RP39, US2, USH2, dJ1111A8.1.
Associated Diseases
- Retinitis pigmentosa
- Retinitis pigmentosa 39
- Usher syndrome, type IIA
- Usher syndrome type 2
- Usher syndrome
