Recombinant Human Retinol dehydrogenase 12 (RDH12)

1. The RDH12 compound heterozygous variants might be the cause of the LCA family. Our study adds to the molecular spectrum of RDH12-related retinopathy and offers an effective example of the power of phenotype-genotype correlations in molecular diagnosis of LCA. PMID: 28471114
2. Peripapillary sparing is a novel phenotypic feature of RDH12-associated Leber congenital amaurosis. PMID: 28513254
3. The mutation detection of RDH12 in this study also implies that whole exome sequencing is a useful method for detection of potential mutations in small families with atypical clinical manifestations of genetic disease. PMID: 26848971
4. We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12). PMID: 26691045
5. Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families. PMID: 25148430
6. Here we demonstrate that microtubule-associated protein 1 light chain 3A (LC3A), a marker of autophagy, is related to hypoxia and poor prognosis in clear cell ovarian cancer. PMID: 22926683
7. The three patients with Leber congenital amaurosis/early-onset retinal dystrophy had a progressive decrease of their vision with the formation of a posterior staphyloma. PMID: 24752437
8. Two novel missense mutations in the RDH12 gene are associated with retinitis pigmentosa. PMID: 23900199
9. Seventeen novel mutations in the RDH12 gene were identified that accounted for approximately 7% of disease in a cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy. PMID: 22065924
10. LCA has been associated with sequence variations of 14 different genes; in approximately 30% of all cases pathogenic mutations remain to be determined. PMID: 20736127
11. The retina RDH12 reduces 4-HNE to a nontoxic alcohol, protecting cellular macromolecules against oxidative modification and protecting photoreceptors from light-induced apoptosis. PMID: 19686838
12. Results suggest that the accelerated degradation of RDH12 mutants by the ubiquitin-proteasome system contributes to the pathophysiology and phenotypic variability associated with mutations in the RDH12 gene. PMID: 20006610
13. Our studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells. PMID: 15258582
14. All patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia. PMID: 15322982
15. In most tissues RDH12 primarily contributes to the reduction of all-trans-retinaldehyde; however, in cells undergoing oxidative stress, such as photoreceptors, RDH12 might also play a role in detoxification of lipid peroxidation products. PMID: 15865448
16. The results demand critical consideration of the human disease mechanism and the therapeutic approach in patients with mutations in the putative visual cycle gene RDH12. PMID: 17197551
17. Ophthalmic findings in persons with RDH12 mutations suggest that RDH12 loss-of-function results in a characteristic form of early and progressive rod-cone degeneration PMID: 17389517
18. Human type 12 RDH reduces dihydrotestosterone to androstanediol, and is thus involved in steroid metabolism. PMID: 17512723
19. in patients with Leber congenital amaurosis, autosomal recessive retinitis pigmentosa, and autosomal dominant/recessive cone-rod dystrophies six different variants of RDH12 were observed of which three variants were novel PMID: 17512964
20. The demonstration that mutations in a gene previously associated with recessive Leber congenital amaurosis can also cause dominant RP illustrates the wide phenotypic variability of retinal degeneration genes. PMID: 18779497
21. The RDH12-associated phenotype is not homogeneous, the position and nature of the mutations clearly influence the pathologic expression of this disease. PMID: 19011012

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HGNC: 19977

OMIM: 608830

KEGG: hsa:145226

STRING: 9606.ENSP00000267502

UniGene: Hs.415322