The RDH12 Antibody (PAC039030) is a valuable tool for research involving RDH12, a key enzyme involved in retinol metabolism and implicated in various retinal diseases. This polyclonal antibody, raised in rabbits, exhibits high reactivity with human samples and is validated for use in various applications, including Western blot and immunohistochemistry.RDH12 plays a crucial role in the visual cycle and is essential for maintaining proper vision function. Mutations in the RDH12 gene have been linked to retinal diseases such as Leber congenital amaurosis and retinitis pigmentosa, making it a valuable target for research in ophthalmology and vision science.
This antibody binds specifically to the RDH12 protein, enabling precise detection and analysis in retinal cells and tissues. By understanding the function and regulation of RDH12, researchers can uncover new insights into retinal diseases and potentially develop targeted therapies to treat these debilitating conditions.
Antibody Name:
RDH12 Antibody (PACO39030)
Antibody SKU:
PACO39030
Size:
50ug
Host Species:
Rabbit
Tested Applications:
ELISA, IHC
Recommended Dilutions:
ELISA:1:2000-1:10000, IHC:1:20-1:200
Species Reactivity:
Human
Immunogen:
Recombinant Human Retinol dehydrogenase 12 protein (1-316AA)
Immunohistochemistry of paraffin-embedded human kidney tissue using PACO39030 at dilution of 1:100.
Immunohistochemistry of paraffin-embedded human gastric cancer using PACO39030 at dilution of 1:100.
Background:
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.
Synonyms:
Retinol dehydrogenase 12 (EC 1.1.1.-) (All-trans and 9-cis retinol dehydrogenase) (Short chain dehydrogenase/reductase family 7C member 2), RDH12, SDR7C2
UniProt Protein Function:
RDH12: 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. Defects in RDH12 are the cause of Leber congenital amaurosis type 13 (LCA13). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in RDH12 are the cause of retinitis pigmentosa type 53 (RP53). RP53 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the short-chain dehydrogenases/reductases (SDR) family.Protein type: Oxidoreductase; Cofactor and Vitamin Metabolism - retinol; EC 1.1.1.-Chromosomal Location of Human Ortholog: 14q24.1Cellular Component: intracellularMolecular Function: protein binding; retinol dehydrogenase activityBiological Process: phototransduction, visible light; visual perception; retinol metabolic process; photoreceptor cell maintenance; retinoid metabolic processDisease: Leber Congenital Amaurosis 13
UniProt Protein Details:
NCBI Summary:
The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq, Jul 2008]
retinol dehydrogenase 12; all-trans and 9-cis retinol dehydrogenase; retinol dehydrogenase 12, all-trans and 9-cis; short chain dehydrogenase/reductase family 7C, member 2