Gene

RPE65

retinoid isomerohydrolase RPE65

Cytogenetic location: 1p31.3
Coordinates: Chromosome 1: 68,428,822–68,449,954 (GRCh38)
Exons: 14 exons across 21.1 kb
Protein: 533 amino acids
Inheritance: Autosomal dominant Autosomal recessive
Also known as: LCA2, rd12, BCO3
Previous symbols: RP20
MANE Select transcript: ENST00000262340.6NM_000329.3
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

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

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Curated reports relevant to this gene

Leber Congenital Amaurosis & RPE65-Related Retinopathy
- RPE65-Related Recessive RetinopathyAutosomal recessive
  A retinal dystrophy caused by changes in both copies of RPE65, ranging from Leber congenital amaurosis to early-onset retinitis pigmentosa.
  - ClinGen rates the link definitive
  - 6 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  People with confirmed biallelic RPE65 variants and enough viable retinal cells may be eligible for gene therapy (voretigene neparvovec).
- RPE65-Related Dominant RetinopathyAutosomal dominant
  A rarer, later-onset retinal dystrophy caused by a single dominant change in RPE65.
  - ClinGen rates the link strong
  - 3 GenCC submitters rate it definitive or strong
  What knowing changes
  Regular eye examinations help monitor the retina and support low-vision planning.
- 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.
  - 3 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

Broader groupings

Retinitis Pigmentosa
- One of 77 genes linked to it
  A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
  - 2 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list

Inheritance

Autosomal dominant: One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
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 RPE65 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard
Variants with a page

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 2.6 kb of the gene's 21.1 kb; 1,602 of those bases code for the protein.

How a genome test reads RPE65

304

positions in RPE65 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 21.1 kb of RPE65, introns included, not only the 2.6 kb of exons.

Variants with a page (190)

The RPE65 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
A145D	c.434C>A	Exon 5	68,444,592	Likely pathogenic	3 stars out of 4 reviewed by expert panel
A145P	c.433G>C	Exon 5	68,444,593	Likely pathogenic	3 stars out of 4 reviewed by expert panel
A179V	c.536C>T	Exon 6	68,440,960	Likely pathogenic	3 stars out of 4 reviewed by expert panel
A214Sfs*20	c.639dup	Exon 6	68,440,856	Pathogenic	3 stars out of 4 reviewed by expert panel
A360P	c.1078G>C	Exon 10	68,438,237	Likely pathogenic	3 stars out of 4 reviewed by expert panel
A415V	c.1244C>T	Exon 12	68,431,376	Likely pathogenic	3 stars out of 4 reviewed by expert panel
A434E	c.1301C>A	Exon 12	68,431,319	Likely pathogenic	3 stars out of 4 reviewed by expert panel
c.2T>C		Exon 1	68,449,904	Likely pathogenic	3 stars out of 4 reviewed by expert panel
c.11+5G>A		Intron 1	68,449,890	Pathogenic	3 stars out of 4 reviewed by expert panel
c.95-2A>T		Intron 2	68,446,862	Pathogenic	3 stars out of 4 reviewed by expert panel

See all 190 RPE65 variants →

Traits linked to RPE65

The Human Phenotype Ontology lists these as features of the rare conditions RPE65 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the eye

Show 44 more traits

Abnormality of the nervous system

Show 6 more traits

Abnormality of the ear

Abnormality of the cardiovascular system

External links

Gene records

Transcript

Protein

Variants

Clinical

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.). RPE65 gene: retinoid isomerohydrolase RPE65. Retrieved 17 October 2026, from https://dantelabs.com/genes/rpe65

Vancouver

Dante Labs. RPE65 gene: retinoid isomerohydrolase RPE65 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rpe65

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