AIPL1
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | AIPL1 |
| GeneCards | AIPL1 |
| Diseases | AIPL1 |
| wikipedia | AIPL1 |
| AIPL1 | |
| gopubmed | AIPL1 |
| EVS | AIPL1 |
| HEFalMp | AIPL1 |
| MyGene2 | AIPL1 |
| 23andMe | AIPL1 |
| # SNPs | 11 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs12449580 | 0 | 6,433,927 | |
| rs142326926 | 0 | 6,426,615 | |
| rs281865195 | 0 | 6,425,551 | |
| rs61757484 | 0 | 6,425,489 | |
| rs62637010 | 0 | 6,426,934 | |
| rs62637011 | 0 | 6,426,906 | |
| rs62637012 | 0 | 6,426,684 | |
| rs62637014 | 3 | 6,425,781 | |
| rs62637015 | 0 | 6,425,710 | |
| rs62637016 | 0 | 6,425,604 | |
| rs775364986 | 0 | 6,433,984 |
The AIPL1 gene, located on chromosome 17, encodes the Aryl-hydrocarbon-interacting-protein-like 1 protein. Recessively inherited mutations in the AIPL1 gene may be pathogenic for several retinal conditions, including:
- Cone-rod dystrophy
- Leber congenital amaurosis 4 (LCA4)
- Retinitis pigmentosa, juvenile
A 2015 study identified the AIPL1 p.W278X (c.834G>A) mutation, rs62637014, as the most common AIPL1 LCA-associated mutation, occurring in at least one allele in 62% of patients.[PMID 25596619]
