Human RDH12 Recombinant Protein (RPPB2241)

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SKU:
RPPB2241
Product type:
Recombinant Protein
Size:
10ug
Species:
Human
Target:
RDH12
Synonyms:
Retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Synonyms:
LCA3
Synonyms:
LCA13
Synonyms:
SDR7C2
Source:
Escherichia Coli
Uniprot:
Q96NR8
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Description

Product Name:Human RDH12 Recombinant Protein
Product Code:RPPB2241
Size:10µg
Species:Human
Target:RDH12
Synonyms:Retinol dehydrogenase 12 (all-trans/9-cis/11-cis), LCA3, LCA13, SDR7C2, All-trans and 9-cis retinol dehydrogenase, short chain dehydrogenase/reductase family 7C, member 2, FLJ30273, EC 1.1.1.100.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:The RDH12 solution (0.25mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 200mM NaCl, 2mM DTT and 40% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 90% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSHMGKVVV ITGANTGIGK ETARELASRG ARVYIACRDV LKGESAASEI RVDTKNSQVL VRKLDLSDTK SIRAFAEGFL AEEKQLHILI NNAGVMMCPY SKTADGFETH LGVNHLGHFL LTYLLLERLK VSAPARVVNV SSVAHHIGKI PFHDLQSEKR YSRGFAYCHS KLANVLFTRE LAKRLQGTGV TTYAVHPGVV RSELVRHSSL LCLLWRLFSP FVKTAREGAQ TSLHCALAEG LEPLSGKYFS DCKRTWVSPR ARNNKTAERL WNVSCELLGI RWE

RDH12 is a member of the short-chain Dehydrogenases / Reductases (SDR) family. RDH12 is found generally in brain, stomach, eye, skeletal muscle and kidney. RDH12 is a NADPH-dependent retinal reductase whose main activity is toward 9-cis and all-trans-retinol. In addition, RDH12 takes part in the metabolism of short-chain aldehydes but does not display steroid dehydrogenase activity.

RDH12 Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 303 amino acids (39-316) and having a molecular mass of 33.5kDa.RDH12 is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

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]
UniProt Code:Q96NR8
NCBI GenInfo Identifier:116242750
NCBI Gene ID:145226
NCBI Accession:Q96NR8.3
UniProt Secondary Accession:Q96NR8,Q8TAW6, B2RDA2
UniProt Related Accession:Q96NR8
Molecular Weight:35,094 Da
NCBI Full Name:Retinol dehydrogenase 12
NCBI Synonym Full Names:retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
NCBI Official Symbol:RDH12  
NCBI Official Synonym Symbols:LCA3; RP53; LCA13; SDR7C2  
NCBI Protein Information: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
UniProt Protein Name:Retinol dehydrogenase 12
UniProt Synonym Protein Names:All-trans and 9-cis retinol dehydrogenase
Protein Family:Retinol dehydrogenase
UniProt Gene Name:RDH12  
UniProt Entry Name:RDH12_HUMAN
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