This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.
Background References
1. Li J., Bennett K., Stukalov A., Fang B., Zhang G., Yoshida T., Okamoto I., Kim J.Y., Song L., Haura E.B. Perturbation of the mutated EGFR interactome identifies vulnerabilities and resistance mechanisms. Mol Syst Biol 9:705-705 (2013)
2. Tobin J.E., Cui J., Wilk J.B., Latourelle J.C., Laramie J.M., McKee A.C., Guttman M., Karamohamed S., DeStefano A.L., Myers R.H. Sepiapterin reductase expression is increased in Parkinson\'s disease brain tissue. Brain Res 1139:42-47 (2007)
Short chain dehydrogenase/reductase family 38C, member 1 antibody
SPR antibody
SPRE_HUMAN antibody
Images
Western blot analysis of SPR on different lysates with Rabbit anti-SPR antibody (HA722511) at 1/1,000 dilution.
Lane 1: A549 cell lysate Lane 2: MCF7 cell lysate Lane 3: HeLa cell lysate Lane 4: HepG2 cell lysate Lane 5: 293T cell lysate Lane 6: SH-SY5Y cell lysate
Lysates/proteins at 20 µg/Lane.
Predicted band size: 28 kDa Observed band size: 28 kDa
Exposure time: 10 seconds; ECL: K1801;
4-20% SDS-PAGE gel.
Proteins were transferred to a PVDF membrane and blocked with 5% NFDM/TBST for 1 hour at room temperature. The primary antibody (HA722511) at 1/1,000 dilution was used in 5% NFDM/TBST at 4℃ overnight. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1/50,000 dilution was used for 1 hour at room temperature.
Immunocytochemistry analysis of HeLa cells labeling SPR with Rabbit anti-SPR antibody (HA722511) at 1/50 dilution.
Cells were fixed in 4% paraformaldehyde for 20 minutes at room temperature, permeabilized with 0.1% Triton X-100 in PBS for 5 minutes at room temperature, then blocked with 1% BSA in 10% negative goat serum for 1 hour at room temperature. Cells were then incubated with Rabbit anti-SPR antibody (HA722511) at 1/50 dilution in 1% BSA in PBST overnight at 4 ℃. Goat Anti-Rabbit IgG H&L (iFluor™ 488, HA1121) was used as the secondary antibody at 1/1,000 dilution. PBS instead of the primary antibody was used as the secondary antibody only control. Nuclear DNA was labelled in blue with DAPI.
Beta tubulin (M1305-2, red) was stained at 1/100 dilution overnight at +4℃. Goat Anti-Mouse IgG H&L (iFluor™ 594, HA1126) was used as the secondary antibody at 1/1,000 dilution.
Immunohistochemical analysis of paraffin-embedded human thyroid gland cancer tissue with Rabbit anti-SPR antibody (HA722511) at 1/2,000 dilution.
The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 9.0) for 20 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (HA722511) at 1/2,000 dilution for 1 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
Flow cytometric analysis of HeLa cells labeling SPR.
Cells were fixed and permeabilized. Then stained with the primary antibody (HA722511, 1/1,000) (red) compared with Rabbit IgG Isotype Control (green). After incubation of the primary antibody at +4℃ for an hour, the cells were stained with a iFluor™ 488 conjugate-Goat anti-Rabbit IgG Secondary antibody (HA1121) at 1/1,000 dilution for 30 minutes at +4℃. Unlabelled sample was used as a control (cells without incubation with primary antibody; black).
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