CLRN1 : clarin 1

Description

The CLRN1 (clarin 1) is a protein-coding gene located on chromosome 3.

The CLRN1 gene provides instructions for creating a protein called clarin 1. This protein is likely involved in normal hearing and vision. It has been found in several body parts, including sensory cells in the inner ear called hair cells, which transmit sound and motion to the brain. Clarin 1 is also active in the retina, the light-sensitive tissue at the back of the eye. While its exact function is unknown, research suggests it plays a role in communication between nerve cells (neurons) in the inner ear and retina. Clarin 1 may be essential for the development and function of synapses, the junctions between neurons where communication occurs.

CLRN1 is thought to play a role in forming excitatory ribbon synapses, which connect hair cells to cochlear ganglion cells in the inner ear and likely function similarly in the retina.

CLRN1 is also known as RP61, USH3, USH3A.

Associated Diseases

• Retinitis pigmentosa
• Retinitis pigmentosa 61
• Usher syndrome, type IIIA
• Usher syndrome type 3
• Usher syndrome