The RDH12 Polyclonal Antibody (PAC044971) is a valuable tool for researchers investigating the RDH12 protein, which is involved in retinol metabolism and plays a crucial role in vision maintenance. This antibody, produced in rabbits, shows high reactivity with human samples and has been validated for use in Western blot applications.RDH12 is an essential enzyme in the visual cycle, responsible for the reduction of all-trans-retinal back to all-trans-retinol in the retinal pigment epithelium. Mutations in the RDH12 gene have been linked to various retinal diseases, including Leber congenital amaurosis and retinitis pigmentosa, making it a promising target for therapeutic interventions.
Studying the function of RDH12 is essential for understanding the mechanisms underlying retinal degenerative diseases and developing potential treatments. The RDH12 Polyclonal Antibody enables accurate detection and analysis of RDH12 protein levels in different cell types, making it a valuable asset for research in ophthalmology and vision science.
Antibody Name:
RDH12 Antibody (PACO44971)
Antibody SKU:
PACO44971
Size:
50ul
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 (182-316AA)
Form:
Liquid
Storage Buffer:
PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Purification Method:
Antigen Affinity Purified
Clonality:
Polyclonal
Isotype:
IgG
Conjugate:
Non-conjugated
Immunohistochemistry of paraffin-embedded human skeletal muscle tissue using PACO44971 at dilution of 1:100.
Immunohistochemistry of paraffin-embedded human brain tissue using PACO44971 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
