AIPL1
Gene Information
- Official Symbol: AIPL1
- Official Name: aryl hydrocarbon receptor interacting protein like 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 23746
- UniProt: Q9NZN9
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: May be important in protein trafficking and/or protein folding and stabilization.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 5241
- Expression level (log2 read counts): 3.05
AIPL1 Expression in NALM6 Cells: 3.05
