Property Summary

NCBI Gene PubMed Count 43
Grant Count 34
R01 Count 28
Funding $4,941,722.63
PubMed Score 137.79
PubTator Score 102.79

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
group 3 medulloblastoma -1.100 0.038

Gene RIF (25)

PMID Text
25429852 Different mutations in RLBP1 are correlated with quite different morphological and functional characteristics outlines the complexity of the protein.
24921169 RLBP1 gene is upregulated in patients with reactive retinal astrocytic tumors.
23929416 Patients with retinitis punctata albescens (RPA) show variable degrees of foveal cone death, even at an early stage. This finding has implications for future treatment.
22551409 The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation.
22183382 The R234W mutation reveals impaired 11-cis-retinal release through stabilization of the ligand complex.
22171637 The clinical characteristics of a Japanese patient with a homozygous R234W mutation in RLBP1 are very similar to that of Swedish patients with Bothnia dystrophy.
21904838 Identification of autoantibodies specific for two retinal antigens (CRALBP and S-Ag) supports the concept of an autoimmunological origin of the disease.
21447491 mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.
20801516 Observational study of genetic testing. (HuGE Navigator)
20696998 In the RLBP1-Bothnia dystrophy phenotype, a loss of function and thinning of the central macula are found, indicating early damage of the cone photoreceptors in this disease of the visual cycle.
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AA Sequence

MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMV      1 - 70
QAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTI     71 - 140
EAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQ    141 - 210
QAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEI    211 - 280
DENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF                                     281 - 317
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Text Mined References (44)

PMID Year Title
25429852 2015 Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
24921169 2014 Retinal reactive astrocytic tumor: gene expression profiling.
23929416 2013 Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
22551409 2013 Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
22183382 2012 Molecular clues to Bothnia-type retinal dystrophy.
22171637 2012 Clinical features of a Japanese case with Bothnia dystrophy.
21904838 2011 [Blind spot enlargement syndrome in acute zonal occult outer retinopathy with detection of autoantibodies against the retinal antigens CRALBP and S-Ag].
21447491 2011 Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20696998 2010 Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.
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