AIPL1 Chromosome 17
AIP like 1 HSP90 co-chaperone
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What This Gene Does
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 Info
Gene Group
FKBP prolyl isomerase family
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000129221
Associated Conditions (20)
Leber congenital amaurosis 4
Leber congenital amaurosis
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases
AIPL1-related disorder
Juvenile retinitis pigmentosa
AIPL1-related
CONE-ROD DYSTROPHY
AIPL1-RELATED
Leber congenital amaurosis 1
Myopia 25
autosomal dominant
Nystagmus
High myopia
early-onset
AIPL1-related retinopathy
Abnormality of the eye
Retinal disorder
Cone-rod dystrophy 2
Key Variants
RS1297434866
Conflicting classifications of pathogenicity
Leber congenital amaurosis 4, Leber congenital amaurosis, Leber congenital amaurosis 4
Health Risk
RS138585919
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 4, Retinal dystrophy
Health Risk
RS139079107
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 4, Inborn genetic diseases
Health Risk
RS140124986
Conflicting classifications of pathogenicity
Leber congenital amaurosis 4, Leber congenital amaurosis 4
Health Risk
RS142208422
Conflicting classifications of pathogenicity
Leber congenital amaurosis 4, Leber congenital amaurosis 4
Health Risk
RS142319505
Conflicting classifications of pathogenicity
Leber congenital amaurosis 4, Leber congenital amaurosis 4
Health Risk
RS144822294
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 4, AIPL1-related disorder
Health Risk
RS145304845
Conflicting classifications of pathogenicity
Leber congenital amaurosis 4, Leber congenital amaurosis 4
Health Risk
RS150656720
Conflicting classifications of pathogenicity
Leber congenital amaurosis 4, Leber congenital amaurosis 4
Health Risk
RS16955859
Conflicting classifications of pathogenicity
Leber congenital amaurosis 4, AIPL1-related disorder, Leber congenital amaurosis 4
Health Risk
RS188246267
Conflicting classifications of pathogenicity
Leber congenital amaurosis 4, Leber congenital amaurosis 4
Health Risk
RS188779461
Conflicting classifications of pathogenicity
Leber congenital amaurosis 4, Leber congenital amaurosis 4
Health Risk
All Variants (91)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1362798167 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS139305531 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS140808549 | Health Risk | Pathogenic | Leber congenital amaurosis 4, AIPL1-related retinopathy, Leber congenital amaurosis 4 |
| RS142326926 | Health Risk | Pathogenic | Leber congenital amaurosis 4, AIPL1-related disorder, CONE-ROD DYSTROPHY |
| RS145112457 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1468041544 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis 4, Leber congenital amaurosis |
| RS150097891 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Retinitis pigmentosa, AIPL1-related retinopathy |
| RS150886208 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1567637144 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1597340989 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1911894399 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1912011058 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1912058703 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1912228419 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1912919808 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1912920081 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1913249761 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS200125117 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis, AIPL1-related retinopathy |
| RS2150674982 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS2150677132 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS2150678060 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS2543877681 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS2543878362 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis, AIPL1-related retinopathy |
| RS2543883456 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS2543885495 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS2543893959 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS2543916709 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS2543922227 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS368845643 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS374255033 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS62637009 | Health Risk | Pathogenic | Leber congenital amaurosis 4, AIPL1-related retinopathy, Leber congenital amaurosis 4 |
| RS62637010 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis, AIPL1-related retinopathy |
| RS62637014 | Health Risk | Pathogenic | Leber congenital amaurosis 4, AIPL1-related disorder, Leber congenital amaurosis |
| RS62637016 | Health Risk | Pathogenic | Leber congenital amaurosis 4, AIPL1-related retinopathy, Leber congenital amaurosis 4 |
| RS751881283 | Health Risk | Pathogenic | Leber congenital amaurosis 4, AIPL1-related disorder, Leber congenital amaurosis 4 |
| RS757900399 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS772417830 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS776129172 | Health Risk | Pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis 4 |
| RS1597331616 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 4, Retinitis pigmentosa, Cone-rod dystrophy 2 |
| RS748210823 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 4, Leber congenital amaurosis, Leber congenital amaurosis 4 |
| RS758001091 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis 4, Retinal dystrophy |