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Gene

AIPL1

AIP like 1 HSP90 co-chaperone

Summary

Cytogenetic location
17p13.2
Coordinates
Chromosome 17: 6,423,738–6,435,121 (GRCh38)
Exons
6 exons across 11.4 kb
Protein
384 amino acids
Inheritance
Autosomal recessive
Previous symbols
LCA4
MANE Select transcript
ENST00000381129.8NM_014336.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Leber Congenital Amaurosis & RPE65-Related Retinopathy

    • Leber Congenital AmaurosisAutosomal recessive

      A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How AIPL1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where AIPL1 sits. AIPL1 and 13 genes near it on chromosome 17, from 5,929,430 to 6,929,429.Chromosome 1717p13.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.36 Mb6.2 Mb6.4 Mb6.6 Mb6.8 Mb: 5,772,926–6,080,792, forward strandWSCD1: 6,057,807–6,124,427, forward strandWSCD1AIPL1: 6,423,738–6,435,121, reverse strandAIPL1PIMREG: 6,443,544–6,451,469, forward strandPIMREGPITPNM3: 6,451,263–6,556,567, reverse strandPITPNM3: 6,578,031–6,640,711, reverse strandKIAA0753: 6,578,031–6,640,741, reverse strandKIAA0753TXNDC17: 6,640,712–6,646,374, forward strandTXNDC17MED31: 6,643,311–6,652,290, reverse strandMED31C17orf100: 6,651,762–6,693,202, forward strandSLC13A5: 6,684,715–6,713,377, reverse strandSLC13A5XAF1: 6,755,375–6,775,647, forward strandXAF1FBXO39: 6,776,210–6,797,101, forward strandFBXO39TEKT1: 6,789,133–6,831,761, reverse strandTEKT1Diagram of AIPL1: 6 exons on the reverse strand of chromosome 17Exon 6: 10 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 14 known disease-causing sitesExon 1: 8 known disease-causing sitesExon 6: 6,423,738–6,425,830, 2,093 basesExon 5: 6,426,615–6,426,756, 142 basesExon 4: 6,426,881–6,427,057, 177 basesExon 3: 6,428,318–6,428,506, 189 basesExon 2: 6,433,919–6,434,098, 180 basesExon 1: 6,435,009–6,435,121, 113 bases6543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.9 kb of the gene's 11.4 kb; 1,155 of those bases code for the protein.

How a genome test reads AIPL1

67

positions in AIPL1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 11.4 kb of AIPL1, introns included, not only the 2.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). AIPL1 gene: AIP like 1 HSP90 co-chaperone. Retrieved 17 October 2026, from https://dantelabs.com/genes/aipl1

Vancouver

Dante Labs. AIPL1 gene: AIP like 1 HSP90 co-chaperone [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aipl1

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