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Exhibits an oxidoreductive catalytic activity towards retinoids. Zusätzlich bieten wir Ihnen RDH12 Antikörper (22) und viele weitere Produktgruppen zu diesem Protein an.
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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 (zeige RDH5 Proteine), Rdh8 (zeige HSD17B6 Proteine), or Rdh11 (zeige RDH11 Proteine), suggest that the activity of any one isoform is not rate limiting in the visual response.
Oxidative stress induced (zeige SQSTM1 Proteine) by exposure to constant bright light led to a rapid and significant decrease of RDH12 protein. The low and constant expression of RDH11 (zeige RDH11 Proteine) 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
The RDH12 compound heterozygous variants might be the cause of the LCA (zeige CLTA Proteine) 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 (zeige CLTA Proteine).
Peripapillary sparing is a novel phenotypic feature of RDH12-associated Leber congenital amaurosis.
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.
We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy (zeige MERTK Proteine). All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12).
Mutations in the AIPL1 (zeige AIPL1 Proteine) and RDH12 genes associated with leber congenital amaurosis in two Turkish families.
Here we demonstrate that microtubule-associated protein 1 light chain 3A (zeige MAP1LC3A Proteine) (LC3A (zeige MAP1LC3A Proteine)), 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 (zeige MERTK Proteine) 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 (zeige MERTK Proteine).
LCA (zeige CLTA Proteine) has been associated with sequence variations of 14 different genes; in approximately 30% of all cases pathogenic mutations remain to be determined.
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