RDH12
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Official Full Name
retinol dehydrogenase 12 (all-trans/9-cis/11-cis) -
Overview
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). -
Synonyms
RDH12;retinol dehydrogenase 12 (all-trans/9-cis/11-cis);retinol dehydrogenase 12 (all trans and 9 cis);retinol dehydrogenase 12;FLJ30273;LCA13;SDR7C2;short chain dehydrogenase/reductase family 7C;member 2;All trans and 9 cis retinol dehydrogenase;All-trans and 9-cis retinol dehydrogenase;LCA 3;LCA3;RDH 12;RDH12_HUMAN;Retinol dehydrogenase 12 (all trans/9 cis/11 cis);retinol dehydrogenase 12, all-trans and 9-cis;short chain dehydrogenase/reductase family 7C, member 2
Recombinant Proteins
- Human
- Mouse
- Rhesus macaque
- Zebrafish
- E.coli
- Mammalian Cell
- HEK293
- GST
- His
- Non
- His&Fc&Avi
- His&SUMO
Involved Pathway
RDH12 involved in several pathways and played different roles in them. We selected most pathways RDH12 participated on our site, such as Metabolic pathways,Retinol metabolism,Signal Transduction, which may be useful for your reference. Also, other proteins which involved in the same pathway with RDH12 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Visual signal transduction: Rods | CNGA1 |
| Vitamin A and carotenoid metabolism | RBP7,DHRS3,CRABP2,CRABP1,RDH10,BCO2,RARG |
| Visual phototransduction | RPE65B,LRP10,RDH10,RLBP1A,RLN1,RBP3,BCO2L,APOA4B.2,RBP2A,LRP12 |
| Retinol metabolism | AOX1,DHRS3,UGT1A3,Aldh1a7,UGT5G1,SDR16C5A,RDH8A,ALDH1A1,RPE65C,DHRS4L2 |
| Metabolic pathways | CYP26C1,MTHFS,COX6A1,NME5,PDHB,UGT8A,GAPDHS,LIPG,PNLIP,UQCRH |
| Signal Transduction | RSPO2,XK,SPOPL,PROKR1A,ARHGAP40,APOA4A,FABP11B,LIN7B,GMIP,OPN4B |
| The canonical retinoid cycle in rods (twilight vision) | RDH10,RPE65B,RLBP1,RLBP1B,IRBP,RBP4,MYO7A,RBP3,RPE65A,ABCA4A |
| Visual signal transduction: Cones | ARR3,RLN1,GRK7,CNGA3 |
Protein Function
RDH12 has several biochemical functions, for example, protein binding,retinol dehydrogenase activity. Some of the functions are cooperated with other proteins, some of the functions could acted by RDH12 itself. We selected most functions RDH12 had, and list some proteins which have the same functions with RDH12. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| protein binding | C21orf2,PPP2CB,ATOX1,NTF3,DDB2,CBR4,FANCC,FH,GNB2,RGS16 |
| retinol dehydrogenase activity | DHRS9,SDR9C7,RDH7,BMP2,RDH10,ADH1,RDH11,RDH5,AKR1C3,DHRS7C |
Interacting Protein
RDH12 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with RDH12 here. Most of them are supplied by our site. Hope this information will be useful for your research of RDH12.
RBPMS;UBC;BUB1;ANXA8;MAP1LC3A
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References
- Yucel-Yilmaz, D; Tarlan, B; et al. Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes. DNA AND CELL BIOLOGY 33:876-883(2014).
- Sanchez-Alcudia, R; Corton, M; et al. Contribution of Mutation Load to the Intrafamilial Genetic Heterogeneity in a Large Cohort of Spanish Retinal Dystrophies Families. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 55:7562-7571(2014).
