Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23746
MIM: 604392
HGNC: 359
Ensembl: ENSG00000129221
Variants:
dbSNP: 23746
ClinVar: 23746
TCGA: ENSG00000129221
COSMIC: AIPL1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31342828 | 2020 | A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. | 0 |
| 32214115 | 2020 | Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. | 25 |
| 32976546 | 2020 | Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. | 4 |
| 33067476 | 2020 | Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration. | 12 |
| 31342828 | 2020 | A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. | 0 |
| 32214115 | 2020 | Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. | 25 |
| 32976546 | 2020 | Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. | 4 |
| 33067476 | 2020 | Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration. | 12 |
| 31488544 | 2019 | Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor-interacting protein-like 1 with the regulatory Pγ subunit of phosphodiesterase 6. | 8 |
| 31576779 | 2019 | A new novel nonsense mutation in AIPL1 in a LCA4 family. | 0 |
| 31703130 | 2019 | [Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy]. | 0 |
| 31488544 | 2019 | Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor-interacting protein-like 1 with the regulatory Pγ subunit of phosphodiesterase 6. | 8 |
| 31576779 | 2019 | A new novel nonsense mutation in AIPL1 in a LCA4 family. | 0 |
| 31703130 | 2019 | [Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy]. | 0 |
| 29721967 | 2018 | The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. | 6 |
Citation
Dessen P
AIPL1 (aryl hydrocarbon receptor interacting protein like 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43661
