RBP3 Chromosome 10

Retinol binding protein 3
97 variants 97 Health Risk

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What This Gene Does
Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]
Associated Conditions (7)
Retinitis pigmentosa
Inborn genetic diseases
Retinitis pigmentosa 66
RBP3-related disorder
Retinal dystrophy
Cone-rod dystrophy
Autosomal recessive retinitis pigmentosa
Key Variants
All Variants (97)
RSID Category Clinical Significance Conditions
RS782233629 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782282118 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782371726 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782455598 Health Risk Conflicting classifications of pathogenicity RBP3-related disorder, Retinal dystrophy, RBP3-related disorder
RS782519239 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS782527628 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS782662883 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
RS886047017 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, RBP3-related disorder, Retinitis pigmentosa
RS917821437 Health Risk Conflicting classifications of pathogenicity
RS1392992564 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1565767178 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1836931186 Health Risk Likely pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS2132257029 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2549028615 Health Risk Likely pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS781793052 Health Risk Likely pathogenic RBP3-related disorder, RBP3-related disorder
RS868975969 Health Risk Likely pathogenic
RS1253286238 Health Risk Pathogenic
RS1346464839 Health Risk Pathogenic
RS144836828 Health Risk Pathogenic
RS146150511 Health Risk Pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS150902800 Health Risk Pathogenic
RS1555210929 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1588865728 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1836898982 Health Risk Pathogenic
RS1836974640 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2132253074 Health Risk Pathogenic
RS2132253612 Health Risk Pathogenic
RS2132253752 Health Risk Pathogenic
RS2132254606 Health Risk Pathogenic
RS2132255138 Health Risk Pathogenic
RS2132255385 Health Risk Pathogenic
RS2549027602 Health Risk Pathogenic
RS2549027726 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2549027953 Health Risk Pathogenic
RS2549028800 Health Risk Pathogenic
RS2549029243 Health Risk Pathogenic
RS781847641 Health Risk Pathogenic
RS781985780 Health Risk Pathogenic
RS782245537 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 66, Autosomal recessive retinitis pigmentosa
RS782330004 Health Risk Pathogenic
RS782463303 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS782492315 Health Risk Pathogenic
RS782574616 Health Risk Pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS782634926 Health Risk Pathogenic
RS1555211286 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS2549028408 Health Risk Pathogenic/Likely pathogenic
RS781881541 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
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