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Exhibits an oxidoreductive catalytic activity towards retinoids. Additionally we are shipping RDH12 Antibodies (22) and many more products for this protein.
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RDH12 in inner segments can protect vital cell organelles against aldehyde toxicity caused by an intracellular leak of all-trans-retinal, as well as other aldehydes originating both inside and outside the cell.
RDH12 plays a unique, nonredundant role in the photoreceptor inner segments to regulate the flow of retinoids in the eye.
The present findings, together with those of earlier studies showing only minor functional deficits in mice deficient for Rdh5 (show RDH5 Proteins), Rdh8 (show HSD17B6 Proteins), or Rdh11 (show RDH11 Proteins), suggest that the activity of any one isoform is not rate limiting in the visual response.
Oxidative stress induced (show SQSTM1 Proteins) by exposure to constant bright light led to a rapid and significant decrease of RDH12 protein. The low and constant expression of RDH11 (show RDH11 Proteins) suggested a housekeeping function for this enzyme.
a critical function of RDH12 is the reduction of all-trans-retinal that exceeds the reductive capacity of the photoreceptor outer segments
We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy (show MERTK Proteins). All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12).
Mutations in the AIPL1 (show AIPL1 Proteins) and RDH12 genes associated with leber congenital amaurosis in two Turkish families.
Here we demonstrate that microtubule-associated protein 1 light chain 3A (show MAP1LC3A Proteins) (LC3A (show MAP1LC3A Proteins)), a marker of autophagy, is related to hypoxia and poor prognosis in clear cell ovarian cancer.
The three patients with Leber congenital amaurosis/early-onset retinal dystrophy (show MERTK Proteins) had a progressive decrease of their vision with the formation of a posterior staphyloma.
Two novel missense mutations in the RDH12 gene are associated with retinitis pigmentosa.
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 (show MERTK Proteins).
LCA (show CLTA Proteins) has been associated with sequence variations of 14 different genes; in approximately 30% of all cases pathogenic mutations remain to be determined.
The retina RDH12 reduces 4-HNE (show ELANE Proteins) to a nontoxic alcohol, protecting cellular macromolecules against oxidative modification and protecting photoreceptors from light-induced apoptosis.
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.
Our studies show that RDH12 is associated with retinal dystrophy (show MERTK Proteins) and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells.
Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments (By similarity).
retinol dehydrogenase 12 (all-trans and 9-cis)
, retinol dehydrogenase 12
, Retinol dehydrogenase 12
, retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
, all-trans and 9-cis retinol dehydrogenase
, retinol dehydrogenase 12, all-trans and 9-cis
, short chain dehydrogenase/reductase family 7C, member 2
, double substrate specificity short chain dehydrogenase/reductase 2
, double substrate specificity short-chain dehydrogenase/reductase 2
, double substrate-specificity short chain dehydrogenase/reductase 2