Gene
LRAT
lecithin retinol acyltransferase
- HGNC 6685↗(opens in a new tab)
- Ensembl gene ENSG00000121207↗(opens in a new tab)
- NCBI Gene 9227↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q32.1
- Coordinates
- Chromosome 4: 154,744,000–154,753,120 (GRCh38)
- Exons
- 3 exons across 9.1 kb
- Protein
- 230 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- LCA14
- MANE Select transcript
- ENST00000336356.4NM_004744.5
- 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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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.
- 3 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 LRAT is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 4.9 kb of the gene's 9.1 kb; 693 of those bases code for the protein.
How a genome test reads LRAT
12
positions in LRAT 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 9.1 kb of LRAT, introns included, not only the 4.9 kb of exons.
Genes linked to the same conditions
- AIPL1AIP like 1 HSP90 co-chaperoneShares 1 condition
- CCT2chaperonin containing TCP1 subunit 2Shares 1 condition
- CEP290centrosomal protein 290Shares 1 condition
- CRB1crumbs cell polarity complex component 1Shares 1 condition
- CRXcone-rod homeoboxShares 1 condition
- GUCY2Dguanylate cyclase 2D, retinalShares 1 condition
- IMPDH1inosine monophosphate dehydrogenase 1Shares 1 condition
- KCNJ13potassium inwardly rectifying channel subfamily J member 13Shares 1 condition
- LCA5lebercilin LCA5Shares 1 condition
- NMNAT1nicotinamide nucleotide adenylyltransferase 1Shares 1 condition
- PRPH2peripherin 2Shares 1 condition
- RD3RD3 regulator of GUCY2DShares 1 condition
Traits linked to LRAT
The Human Phenotype Ontology lists these as features of the rare conditions LRAT can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Rod-cone dystrophy
- Abnormal electroretinogram
- Abnormal optic disc morphology
- Abnormal retinal pigmentation
- Blindness
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Marked vision impairment
Show 44 more traits
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal color vision
- Abnormal full-field electroretinogram
- Abnormal macular morphology
- Abnormal pupillary light reflex
- Bulging cornea
- Clouding of the lens of the eye
- Cystoid macular edema
- Decreased clarity of vision
- Difficulties with night vision
- Eye muscle paralysis
- Farsightedness
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Retinal pigment epithelial mottling
- Slow pupillary light response
- Undetectable electroretinogram
- Abnormal corneal endothelium morphology
- Blurred vision
- Chorioretinal atrophy
- Close sighted
- Granular macular appearance
- Macular pseudocoloboma
- Outward facing eye ball
- Photopsia
- Posterior synechiae of the anterior chamber
- Retinal detachment
- Retinal pigment epithelial atrophy
- Rhegmatogenous retinal detachment
- Abnormal fundus pigmentation
- Blindness present at birth
- Breakdown of light-sensitive cells in back of eye
- Decreased light- and dark-adapted electroretinogram amplitude
- Limited peripheral vision
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). LRAT gene: lecithin retinol acyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/lrat
Dante Labs. LRAT gene: lecithin retinol acyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lrat
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