This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| USH2A-20-RE | 20 (40 μL) | 200 μL |  |
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| USH2A-20-OR | 20 (40 μL) | 200 μL |  |
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| USH2A-20-GO | 20 (40 μL) | 200 μL |  |
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| USH2A-20-GR | 20 (40 μL) | 200 μL |  |
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| USH2A-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Symbol : USH2A
Gene Name : Usherin
Chromosome : CHR 1: 216,423,395-215,622,893
Locus : 1q41
Alt. Genes : YAF2
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