Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| AIPL1-20-RE | 20 (40 μL) | 200 μL |  |
Request Pricing |
| AIPL1-20-OR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| AIPL1-20-GO | 20 (40 μL) | 200 μL |  |
Request Pricing |
| AIPL1-20-GR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| AIPL1-20-AQ | 20 (40 μL) | 200 μL |  |
Request Pricing |
Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Symbol : AIPL1
Gene Name : Aryl hydrocarbon receptor interacting protein like 1
Chromosome : CHR 17: 643,519,8-642,373,6
Locus : 17p13.2
Alt. Genes : OPTN
Lorem Ipsum is simply dummy text of the printing and typesetting industry.
Lorem Ipsum is simply dummy text of the printing and typesetting industry.