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
RS113381589 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS138240045 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa
RS138305522 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS139222112 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139452142 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa, Retinitis pigmentosa
RS140931492 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS142210499 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143076262 Health Risk Conflicting classifications of pathogenicity
RS144289912 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa, RBP3-related disorder
RS145285304 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS146038948 Health Risk Conflicting classifications of pathogenicity
RS146045906 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS146175391 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS146487673 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS146715054 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS147772956 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases
RS147796755 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
RS1480910058 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS148093336 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, RBP3-related disorder, Retinitis pigmentosa 66
RS148247227 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa, RBP3-related disorder
RS148591757 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, RBP3-related disorder, Retinitis pigmentosa 66
RS148615170 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS149642039 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa, Retinitis pigmentosa 66
RS201185969 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinal dystrophy, Retinitis pigmentosa 66
RS201472530 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201808774 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa, Retinitis pigmentosa 66
RS34044042 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS34460089 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS34932849 Health Risk Conflicting classifications of pathogenicity
RS35186791 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
RS35238500 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS370173809 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS372137106 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS373417235 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS3740296 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
RS375342580 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS375422843 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, RBP3-related disorder, Retinitis pigmentosa
RS376194840 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, RBP3-related disorder, Retinitis pigmentosa
RS377374761 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS41284962 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa, RBP3-related disorder
RS527361141 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS534717081 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
RS547601457 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS552706223 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570062125 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS576373730 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS75452094 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
RS756128531 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782049247 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782142964 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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