RDH12, Polyclonal Antibody

Polyclonal RDH12; Anti-RDH12; RDH-12; RDH 12; FLJ30273; Retinol Dehydrogenase 12; LCA3; All-Trans/9-Cis/11-Cis; RDH12

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Affinity purified

Lyophilized powder. Add 50ul distilled water for a 1mg/ml concentration of RDH12 antibody in PBS

1 mg/ml (lot specific)

Store at 2-8 degree C for short periods. For longer periods of storage, store at -20 degree C. Avoid repeat freeze-thaw cycles.

Small volumes of anti-RDH12 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Rabbit polyclonal RDH12 antibody

Nutrition & Metabolism; Purified Polyclonal Antibodies

Western Blot (WB)

WB: 1 ug/ml

RDH12 antibody (MBS5301765) used at 1 ug/ml to detect target protein.

35 kDa (MW of target protein)

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)

retinol dehydrogenase 12

Retinol dehydrogenase 12

SDR7C2  [Similar Products]

RDH12_HUMAN

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]

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: Cofactor and Vitamin Metabolism - retinol; EC 1.1.1.-; Oxidoreductase

Chromosomal Location of Human Ortholog: 14q24.1

Cellular Component: intracellular

Molecular Function: protein binding; retinol dehydrogenase activity

Biological Process: phototransduction, visible light; visual perception; retinol metabolic process; photoreceptor cell maintenance; retinoid metabolic process

Disease: Leber Congenital Amaurosis 13

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