Clarin-1 is a protein that in humans is encoded by the CLRN1 gene. [5][6][7] This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus.

The CLRN1 gene provides information for making a protein called clarin 1. This protein is probably involved in normal hearing and vision. Clarin 1 has been found in several areas of the body, including sensory cells in the inner ear called hair cells. These cells help transmit sound and motion signals to the brain.

2024年12月24日 · CLRN1 (Clarin 1) is a Protein Coding gene. Diseases associated with CLRN1 include Usher Syndrome, Type Iiia and Retinitis Pigmentosa 61. An important paralog of this gene is CLRN2. May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.

2025年2月8日 · Studied role of clarin1 (CLRN1) in activation of hair cell mechanotransduction function through an unconventional secretory pathway, and the possibility this activation may be therapeutic to prevent hair cell dysfunction. Title: Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.

2024年3月1日 · This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and …

Clarin-1 is the protein product encoded by the gene mutated in Usher syndrome III. Although the molecular function of clarin-1 is unknown, its primary structure predicts four transmembrane domains similar to a large family of membrane proteins that ...

Retinitis pigmentosa is a cardinal feature with onset of severe symptoms of nightblindness and tunnel vision by the second decade of life. The ERG shows depressed responses. Central vision may also be lost in young adults.

CLRN1-AS1 (CLRN1 Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with CLRN1-AS1 include Usher Syndrome, Type Iiia and Retinitis Pigmentosa 61. ... Control Lentivectors and Lentiviruses with GFP, RFP, and Luciferase also available. VectorBuilder Custom and pre-made pooled libraries (ie.

Several CLRN1 gene mutations change single protein building blocks (amino acids) in the clarin 1 protein. In some cases, these mutations lead to the production of an abnormally short version of the protein or prevent the production of any functional clarin 1.

May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina. This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus.