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 homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CLRN1-20-RE | 20 (40 μL) | 200 μL |  |
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| CLRN1-20-OR | 20 (40 μL) | 200 μL |  |
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| CLRN1-20-GO | 20 (40 μL) | 200 μL |  |
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| CLRN1-20-GR | 20 (40 μL) | 200 μL |  |
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| CLRN1-20-AQ | 20 (40 μL) | 200 μL |  |
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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 homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Symbol : CLRN1
Gene Name : Clarin 1
Chromosome : CHR 3: 150,972,998-150,926,162
Locus : 3q25.1
Alt. Genes : BCAP31
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