Property Summary

NCBI Gene PubMed Count 44
PubMed Score 123.05
PubTator Score 70.83

Knowledge Summary

Patent

No data available

Expression

 MGI Phenotype (1)

Protein-protein Interaction (3)

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
18363170 study describes an unusual family which included a mother with fundus albipunctatus and three children with typical retinitis pigmentosa; a novel RDH5 mutation was found
16637847 Our study indicates that different mutations in the RDH5 gene can cause phenotypic variations of either fundus albipunctatus or familial fleck retina with night blindness.
15302662 Cone dystrophy can be present in patients with fundus albipunctatus, not only elderly men but also young women.
15007239 Homozygous Gly107Arg mutation in the RDH5 gene in two unrelated Japanese families with fundus albipunctatus.
12967826 A homozygous G490T (Val164Phe) missense RDH5 gene mutation was detected.
12906118 RDH5 gene mutations cause a progressive cone dystrophy or macular dystrophy as well as night blindness. The clinical phenotype including electrophysiological responses varied among patients with the RDH5 gene mutations.
12860821 Fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.
12788147 Macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus.
12732844 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
11812441 Macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctus.

AA Sequence

MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCLTPSGAEDLQR      1 - 70
VASSRLHTTLLDITDPQSVQQAAKWVEMHVKEAGLFGLVNNAGVAGIIGPTPWLTRDDFQRVLNVNTMGP     71 - 140
IGVTLALLPLLQQARGRVINITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAHFGIRVSIVEPGFFRT    141 - 210
PVTNLESLEKTLQACWARLPPATQAHYGGAFLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTR    211 - 280
YSPGWDAKLLWLPASYLPASLVDAVLTWVLPKPAQAVY                                    281 - 318
//

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.
20801113 2010 Retinol dehydrogenases (RDHs) in the visual cycle.
20618457 2010 Genetic analysis of expression profile involved in retinoid metabolism in non-alcoholic fatty liver disease.
20382160 2010 Molecular framework of steroid/retinoid discrimination in 17beta-hydroxysteroid dehydrogenase type 1 and photoreceptor-associated retinol dehydrogenase.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
18949499 2009 Diagnosis in a patient with fundus albipunctatus and atypical fundus changes.
18363170 2008 Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
17476461 2007 Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16637847 2006 Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
15790919 2005 Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15302662 2004 Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
15007239 A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12967826 2003 A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
12906118 2003 RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.
12860821 2003 Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.
12788147 2003 Macular dystrophy in a Japanese family with fundus albipunctatus.
12732844 2003 A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.
12536149 2003 Mapping the ligand binding pocket in the cellular retinaldehyde binding protein.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12226107 2002 Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.
11675386 2001 Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
11470705 2001 Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.
11274198 2001 Interaction of 11-cis-retinol dehydrogenase with the chromophore of retinal g protein-coupled receptor opsin.
11078852 2000 A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.
11053295 2000 A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
10617778 1999 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
10588954 1999 Biochemical properties, tissue expression, and gene structure of a short chain dehydrogenase/ reductase able to catalyze cis-retinol oxidation.
10369264 1999 Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
9931293 1999 Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids and retinoids and expression of its mRNA in extra-ocular human tissue.
9115228 1997 Identification and characterization of a stereospecific human enzyme that catalyzes 9-cis-retinol oxidation. A possible role in 9-cis-retinoic acid formation.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8884265 1996 Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.
7836368 1995 The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases.