AIPL1 aryl hydrocarbon receptor interacting protein like 1
Gene ID: 23746, updated on 11-Apr-2024Gene type: protein coding
Also known as: LCA4; AIPL2
- See all available tests in GTR for this gene
- Go to complete Gene record for AIPL1
- Go to Variation Viewer for AIPL1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Leber congenital amaurosis 4 MedGen: C1858386OMIM: 604393GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview | See labs |
| Retinitis pigmentosa | See labs |
Genomic context
- Location:
- 17p13.2
- Sequence:
- Chromosome: 17; NC_000017.11 (6423738..6435121, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AIPL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.