RLBP1 Chromosome 15
Retinaldehyde binding protein 1
Upload your DNA to see your personal genotypes for variants in RLBP1.
What This Gene Does
The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
CRAL-TRIO lipid binding domain containing
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000140522
Associated Conditions (11)
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Bothnia retinal dystrophy
Retinal dystrophy
RLBP1-related disorder
Inborn genetic diseases
Retinitis punctata albescens
Autosomal recessive retinitis pigmentosa
Retinal disorder
Abnormality of the eye
Key Variants
RS1173705310
Conflicting classifications of pathogenicity
Newfoundland cone-rod dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy
Health Risk
RS138965708
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Bothnia retinal dystrophy, Newfoundland cone-rod dystrophy
Health Risk
RS142244640
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy
Health Risk
RS143817941
Conflicting classifications of pathogenicity
Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy, Retinitis pigmentosa
Health Risk
RS144254383
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Retinitis pigmentosa, Newfoundland cone-rod dystrophy
Health Risk
RS144615495
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy, Retinitis pigmentosa
Health Risk
RS144641995
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146844731
Conflicting classifications of pathogenicity
RLBP1-related disorder, RLBP1-related disorder
Health Risk
RS150636501
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy
Health Risk
RS181321141
Conflicting classifications of pathogenicity
Newfoundland cone-rod dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy
Health Risk
RS181863443
Conflicting classifications of pathogenicity
Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy, Retinitis pigmentosa
Health Risk
RS190236976
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766278489 | Health Risk | Pathogenic | Newfoundland cone-rod dystrophy, Retinitis punctata albescens, Retinitis pigmentosa |
| RS766675673 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS776260543 | Health Risk | Pathogenic | Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy, Bothnia retinal dystrophy |
| RS137853291 | Health Risk | Pathogenic/Likely pathogenic | Retinitis punctata albescens, RLBP1-related disorder, Retinitis pigmentosa |
| RS151141842 | Health Risk | Pathogenic/Likely pathogenic | Pigmentary retinal dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy |
| RS2051527389 | Health Risk | Pathogenic/Likely pathogenic | Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy, Bothnia retinal dystrophy |
| RS28933990 | Health Risk | Pathogenic/Likely pathogenic | Bothnia retinal dystrophy, Retinitis punctata albescens, RLBP1-related disorder |
| RS561618945 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS759505780 | Health Risk | Pathogenic/Likely pathogenic | Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy, Bothnia retinal dystrophy |
| RS760650165 | Health Risk | Pathogenic/Likely pathogenic | RLBP1-related disorder, Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy |
| RS763694069 | Health Risk | Pathogenic/Likely pathogenic | RLBP1-related disorder, Retinitis pigmentosa, RLBP1-related disorder |
| RS764825249 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS786205626 | Health Risk | Pathogenic/Likely pathogenic | Bothnia retinal dystrophy, Retinal dystrophy, Retinitis punctata albescens |