Property Summary

NCBI Gene PubMed Count 44
Grant Count 37
R01 Count 34
Funding $3,867,904.47
PubMed Score 123.05
PubTator Score 70.83

Knowledge Summary

Patent

No data available

Expression

Gene RIF (20)

PMID Text
25170858 A novel c.832C>T (p.Arg278Ter) nonsense mutation in RDH5 was identified. Preserved rod function was observed in one young subject in this study.
24246574 Macular cone density is lower and the regularity of the macular cone mosaic spatial arrangement is disrupted in eyes with fundus albipunctatus.
22815624 Four novel RDH5 gene mutations were identified in fundus albipunctatus Israeli patients. Of them, the null mutations c.343C>T (p.R54X) and c. 242delTGCC were the most prevalent.
22736946 RDH5 sequence analysis revealed a novel five base pair deletion, c.913_917delGTGCT (p.Val305Hisfs*29), in family A, and a novel missense mutation, c.758T>G (p.Met253Arg), in family B with fundus albipunctatus.
22669287 The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC --> AGC) and a nonsense mutation of Trp95ter (TGG --> TGA) in the RDH5 gene.
21529959 The clinical and electrophysiologic phenotype of patients with RDH5 retinopathy is variable.
20829743 Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation.
20801516 Observational study of genetic testing. (HuGE Navigator)
20382160 An amino acid important for steroid/retinoid discrimination was identified and its significance was highlighted by the results of molecular modeling studies.
19460752 Knockdown of retinol dehydrogenase 5 (11-cis/9-cis) (RDH5) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
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AA Sequence

MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCLTPSGAEDLQR      1 - 70
VASSRLHTTLLDITDPQSVQQAAKWVEMHVKEAGLFGLVNNAGVAGIIGPTPWLTRDDFQRVLNVNTMGP     71 - 140
IGVTLALLPLLQQARGRVINITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAHFGIRVSIVEPGFFRT    141 - 210
PVTNLESLEKTLQACWARLPPATQAHYGGAFLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTR    211 - 280
YSPGWDAKLLWLPASYLPASLVDAVLTWVLPKPAQAVY                                    281 - 318
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Text Mined References (47)

PMID Year Title
25820994 2015 Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
25170858 2015 RDH5 retinopathy (fundus albipunctatus) with preserved rod function.
24246574 2014 Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
22815624 2012 Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.
22736946 2012 Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
22669287 2012 Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.
21529959 2011 Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
20829743 Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
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