LRAT Chromosome 4
Lecithin retinol acyltransferase
Upload your DNA to see your personal genotypes for variants in LRAT.
What This Gene Does
The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Gene Info
Gene Group
LRAT domain containing
Locus Type
gene with protein product
Location
4q32.1
Ensembl
ENSG00000121207
Associated Conditions (15)
Retinitis pigmentosa
Leber congenital amaurosis 14
Leber congenital amaurosis 1
Inborn genetic diseases
LRAT-related disorder
Rod-cone dystrophy
Leber congenital amaurosis
Autosomal recessive retinitis pigmentosa
RETINAL DYSTROPHY
EARLY-ONSET SEVERE
LRAT-RELATED
Retinal dystrophy
Abnormality of the eye
RETINITIS PIGMENTOSA
JUVENILE
Key Variants
RS1010347467
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 14, Retinitis pigmentosa
Health Risk
RS1035206645
Conflicting classifications of pathogenicity
Leber congenital amaurosis 1, Leber congenital amaurosis 1
Health Risk
RS144754979
Conflicting classifications of pathogenicity
Leber congenital amaurosis 14, Retinitis pigmentosa, Leber congenital amaurosis 14
Health Risk
RS1578860322
Conflicting classifications of pathogenicity
Leber congenital amaurosis 1, Leber congenital amaurosis 14, Leber congenital amaurosis 1
Health Risk
RS199634166
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375365480
Conflicting classifications of pathogenicity
Leber congenital amaurosis 14, Retinitis pigmentosa, LRAT-related disorder
Health Risk
RS529360609
Conflicting classifications of pathogenicity
Leber congenital amaurosis 14, Retinitis pigmentosa, Rod-cone dystrophy
Health Risk
RS766279892
Conflicting classifications of pathogenicity
Leber congenital amaurosis 14, Leber congenital amaurosis 14
Health Risk
RS768389044
Conflicting classifications of pathogenicity
Leber congenital amaurosis 14, Retinitis pigmentosa, Leber congenital amaurosis 14
Health Risk
RS770608706
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS920685564
Conflicting classifications of pathogenicity
Leber congenital amaurosis 14, Leber congenital amaurosis 14
Health Risk
RS1384466058
Likely pathogenic
Leber congenital amaurosis 14, Leber congenital amaurosis 14
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1010347467 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 14, Retinitis pigmentosa |
| RS1035206645 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS144754979 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 14, Retinitis pigmentosa, Leber congenital amaurosis 14 |
| RS1578860322 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Leber congenital amaurosis 14, Leber congenital amaurosis 1 |
| RS199634166 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375365480 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 14, Retinitis pigmentosa, LRAT-related disorder |
| RS529360609 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 14, Retinitis pigmentosa, Rod-cone dystrophy |
| RS766279892 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 14, Leber congenital amaurosis 14 |
| RS768389044 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 14, Retinitis pigmentosa, Leber congenital amaurosis 14 |
| RS770608706 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS920685564 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 14, Leber congenital amaurosis 14 |
| RS1384466058 | Health Risk | Likely pathogenic | Leber congenital amaurosis 14, Leber congenital amaurosis 14 |
| RS1578860254 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1732848653 | Health Risk | Likely pathogenic | Leber congenital amaurosis 14, Leber congenital amaurosis 14 |
| RS2111038250 | Health Risk | Likely pathogenic | — |
| RS2529971841 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS768255532 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS786205644 | Health Risk | Likely pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS104893848 | Health Risk | Pathogenic | RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED |
| RS1439470206 | Health Risk | Pathogenic | — |
| RS1560871145 | Health Risk | Pathogenic | — |
| RS1732838323 | Health Risk | Pathogenic | — |
| RS1732840025 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Leber congenital amaurosis 14, Autosomal recessive retinitis pigmentosa |
| RS1732935012 | Health Risk | Pathogenic | Leber congenital amaurosis 14, Leber congenital amaurosis 14 |
| RS2111031951 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2111032416 | Health Risk | Pathogenic | Abnormality of the eye, Leber congenital amaurosis 14, Abnormality of the eye |
| RS2111032788 | Health Risk | Pathogenic | — |
| RS2529972069 | Health Risk | Pathogenic | — |
| RS2529972387 | Health Risk | Pathogenic | — |
| RS2529973359 | Health Risk | Pathogenic | — |
| RS398124185 | Health Risk | Pathogenic | — |
| RS761717462 | Health Risk | Pathogenic | RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED |
| RS780578479 | Health Risk | Pathogenic | Leber congenital amaurosis 14, Leber congenital amaurosis 14 |
| RS878853351 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1560870755 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 14, RETINITIS PIGMENTOSA, JUVENILE |
| RS527236079 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Leber congenital amaurosis, Leber congenital amaurosis 1 |
| RS765063151 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS779996159 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Leber congenital amaurosis 14, Retinitis pigmentosa |