Use your antibodies-online credentials, if available.
Il n’y a pas de produits dans votre liste de comparaison.
Votre panier est vide.
Exhibits an oxidoreductive catalytic activity towards retinoids. De plus, nous expédions RDH12 Protéines (8) et beaucoup plus de produits pour cette protéine.
Showing 10 out of 22 products:
Dog (Canine) Polyclonal RDH12 Primary Antibody pour WB - ABIN2785175
Sun, Gerth, Maeda, Lodowski, Van Der Kraak, Saperstein, Héon, Palczewski: Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. dans Vision research 2007
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 (Montrer RDH5 Anticorps), Rdh8 (Montrer HSD17B6 Anticorps), or Rdh11 (Montrer RDH11 Anticorps), suggest that the activity of any one isoform is not rate limiting in the visual response.
Oxidative stress induced (Montrer SQSTM1 Anticorps) by exposure to constant bright light led to a rapid and significant decrease of RDH12 protein. The low and constant expression of RDH11 (Montrer RDH11 Anticorps) 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
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 (Montrer MERTK Anticorps). All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12).
Mutations in the AIPL1 (Montrer AIPL1 Anticorps) and RDH12 genes associated with leber congenital amaurosis in two Turkish families.
Here we demonstrate that microtubule-associated protein 1 light chain 3A (Montrer MAP1LC3A Anticorps) (LC3A (Montrer MAP1LC3A Anticorps)), 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 (Montrer MERTK Anticorps) 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 (Montrer MERTK Anticorps).
LCA (Montrer CLTA Anticorps) 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 (Montrer ELANE Anticorps) to a nontoxic alcohol, protecting cellular macromolecules against oxidative modification and protecting photoreceptors from light-induced apoptosis.
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