Matches in DBpedia 2014 for { <http://dbpedia.org/resource/AIPL1> ?p ?o. }
Showing items 1 to 23 of
23
with 100 items per page.
- AIPL1 abstract "Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.".
- AIPL1 entrezgene "23746".
- AIPL1 wikiPageExternalLink NBK1417.
- AIPL1 wikiPageID "14813487".
- AIPL1 wikiPageRevisionID "602991084".
- AIPL1 hasPhotoCollection AIPL1.
- AIPL1 requireManualInspection "no".
- AIPL1 summaryText "Leber congenital amaurosis accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.".
- AIPL1 updateCitations "yes".
- AIPL1 updatePage "yes".
- AIPL1 updateProteinBox "yes".
- AIPL1 updateSummary "yes".
- AIPL1 type Biomolecule.
- AIPL1 type Protein.
- AIPL1 type BiologicalObject.
- AIPL1 comment "Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram.".
- AIPL1 label "AIPL1".
- AIPL1 sameAs m.03gyt9d.
- AIPL1 sameAs Q4651978.
- AIPL1 sameAs Q4651978.
- AIPL1 sameAs AIPL1.
- AIPL1 wasDerivedFrom AIPL1?oldid=602991084.
- AIPL1 isPrimaryTopicOf AIPL1.