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Gene : AIPL1 Homo sapiens

Name  ? aryl hydrocarbon receptor interacting protein like 1 Cytological Location  17p13.2
Brief Description  aryl hydrocarbon receptor interacting protein like 1
Description  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]
  • synonyms:
  • AF148864,
  • uc002gcp.5,
  • HGNC:359,
  • LCA4,
  • OTTHUMG00000102043,
  • aryl hydrocarbon receptor-interacting protein-like 1,
  • aryl hydrocarbon receptor interacting protein-like 1,
  • AIPL2,
  • NM_014336,
  • AIPL1,
  • LCA4
  • identifiers:
  • 23746,
  • ENSG00000129221,
  • AIPL1

Genome feature

Region: gene ? Length: 11384  
Location: 17:6423738-6435121 reverse strand Cyto location: 17p13.2


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Gene --> GO terms.

 

Other

0 Pathways

161 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results