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Gitelman Syndrome: Disease Bioinformatics

Gitelman syndrome is an inherited kidney disease. Gitelman syndrome is caused by a defect in the kidney’s ability to reabsorb magnesium, sodium, potassium, and chloride also known as electrolytes. This is due to a mutation in the gene that codes for one of the electrolyte transporters in the kidney. The absence of this transporter may account for loss of magnesium and potassium and inadequate excretion of calcium from the kidneys. It is estimated that Gitelman syndrome occurs in 1 in 40,000 individuals. It affects both males and females of all ethnic backgrounds. Some of the symptoms include weakness and fatigue, muscle cramping excessive urination, and salt cravings.

Top Research Reagents

We have 1805 products for the study of Gitelman Syndrome that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Serpin A8/Angiotensinogen Antibody - BSA Free
NBP1-30027
Western Blot: Serpin A8/Angiotensinogen Antibody [NBP1-30027] - Analysis of Angiotensinogen in human kidney lysate.Immunocytochemistry/Immunofluorescence: Serpin A8/Angiotensinogen Antibody [NBP1-30027] - HepG2 cells were fixed for 10 minutes using 10% formalin and then permeabilized for 5 minutes using 1X TBS + 0.5% Triton-X100. The cells were incubated with anti-Angiotensinogen at 10 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:500 dilution. Alpha tubulin (DM1A) NB100-690 was used as a co-stain at a 1:1000 dilution and detected with an anti-mouse Dylight 550 (Red) at a 1:500 dilution. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 40X objective.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

11 Publications
SLC12A3 Antibody
NBP1-44270
Western Blot: SLC12A3 Antibody [NBP1-44270] - Western blot analysis of Rat tissue lysates showing detection of SLC12A3 protein using Rabbit Anti-SLC12A3 Polyclonal Antibody (NBP1-44270). Primary Antibody: Rabbit Anti-SLC12A3 Polyclonal Antibody (NBP1-44270) at 1:1000.Immunohistochemistry: SLC12A3 Antibody [NBP1-44270] - Immunohistochemistry analysis using Rabbit Anti-SLC12A3 Polyclonal Antibody (NBP1-44270). Tissue: kidney tissue. Species: Rat. Primary Antibody: Rabbit Anti-SLC12A3 Polyclonal Antibody (NBP1-44270) at 1:200. Secondary Antibody: FITC Goat Anti-Rabbit (green).

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, EM, ICC/IF

1 Publication
STK39 Antibody (OTI4E3)
NBP1-48021
Western Blot: STK39 Antibody (4E3) [NBP1-48021] Analysis of extracts (35ug) from 9 different cell lines by usin g anti-STK39 monoclonal antibody (HepG2: human; HeLa: human; SVT2: mouse; A549: human; COS7: monkey; Jurkat: human; MDCK: canine; PC12: rat; MCF7: human).Immunocytochemistry/Immunofluorescence: STK39 Antibody (4E3) [NBP1-48021] - Immunofluorescent staining of COS7 cells using anti-STK39 mouse monoclonal antibody.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC/IF

1 Publication
NKCC2/SLC12A1 Antibody
NBP1-80993
Immunohistochemistry-Paraffin: NKCC2/SLC12A1 Antibody [NBP1-80993] - Analysis in human kidney and pancreas tissues using NBP1-80993 antibody. Corresponding SLC12A1 RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: NKCC2/SLC12A1 Antibody [NBP1-80993] - Staining of human cerebellum, kidney, liver and pancreas using Anti-SLC12A1 antibody NBP1-80993 (A) shows similar protein distribution across tissues to independent antibody NBP1-82559 (B).

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF, IHC

1 Publication
KCNJ1 Antibody
NBP1-82874
Immunohistochemistry-Paraffin: KCNJ1 Antibody [NBP1-82874] -Analysis in human kidney and pancreas tissues using NBP1-82874 antibody. Corresponding KCNJ1 RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: KCNJ1 Antibody [NBP1-82874] - Staining of human kidney shows high expression.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications ICC/IF, IHC, IHC-P

4 Publications
TRP2 Antibody
NBP1-86893
Immunohistochemistry-Paraffin: TRP2 Antibody [NBP1-86893] - Analysis in human skin and lymph node tissues. Corresponding DCT RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: TRP2 Antibody [NBP1-86893] - Staining of human cerebral cortex, lymph node, skin and testis using Anti-TRP2 antibody NBP1-86893 (A) shows similar protein distribution across tissues to independent antibody NBP1-86892 (B).

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF, IHC

     1 Review

2 Publications
Blooms Syndrome Protein Blm Antibody
NBP1-89929
Immunocytochemistry/Immunofluorescence: Blooms Syndrome Protein Blm Antibody [NBP1-89929] - Staining of human cell line A-431 shows positivity in nucleus and cytoplasm. Antibody staining is shown in green.Immunohistochemistry-Paraffin: Blooms Syndrome Protein Blm Antibody [NBP1-89929] - Staining of human stomach shows strong nuclear positivity in glandular cells.

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF, IHC

     1 Review

4 Publications
tescalcin Antibody
NBP2-13426
Immunohistochemistry-Paraffin: tescalcin Antibody [NBP2-13426] - Staining in human salivary gland and colon tissues using anti-TESC antibody. Corresponding TESC RNA-seq data are presented for the same tissues.Immunocytochemistry/Immunofluorescence: tescalcin Antibody [NBP2-13426] - Staining of human cell line A549 shows localization to nucleoplasm & cytosol. Antibody staining is shown in green.

Rabbit Polyclonal
Species Human
Applications ICC/IF, IHC, IHC-P

Renin Antibody [Unconjugated] - 1
AF4277
Renin was detected in perfusion fixed frozen sections of mouse kidney using Goat Anti-Mouse Renin 1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF4277) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=RLCs invade the glomerulus during EC model.A. Intraglomerular RLCs tagged by beta -gal, but negative for renin appear in the regenerative phase of the EC model (day 7). Representative confocal microscopy images for day 0 and day 7 of beta -gal/renin co-stained kidney slices. 4′,6-diamidino-2-phenylindole (DAPI) was used as a nuclear marker. The channels for green ( beta -gal) and red (renin) fluorescent signals in the dashed square on day 7 are separately shown in the small right panels. Scale bars correspond to 25 μm; B. Representative 3D reconstruction of glomeruli and beta -gal labelled RLCs (blue) on day 0 and day 7 of the EC model. The mesangial cell marker alpha 8-integrin (red) was used to visualize the glomeruli. Scale bars correspond to 20 μm; C. Quantification of glomeruli with tufts containing beta -gal expressing RLCs in the regenerative phase of the EC model (day 7). Data are presented as mean ± SEM, n = 5/10 for day 0 (baseline) /day 7, respectively. n.d.—not detectable; D. The intraglomerular RLCs observed during the EC model are not of hematopoietic origin. Representative confocal microscopy images for day 0 and day 7 of beta -gal/CD45 (hematopoietic marker) co-stained kidney slices. 4′,6-diamidino-2-phenylindole (DAPI) was used as a nuclear marker. The channels for green ( beta -gal) and red (CD45) fluorescent signals in the dashed square on day 7 are separately shown in the small right panels. Scale bars correspond to 25 μm. Image collected and cropped by CiteAb from the following publication (https://pubmed.ncbi.nlm.nih.gov/29771991), licensed under a CC-BY license. Not internally tested by R&D Systems.

Goat Polyclonal
Species Mouse
Applications WB, IHC, IP

13 Publications
WNK1 Antibody [Unconjugated]
AF2849
Western blot shows lysates of DA3 mouse myeloma cell line. PVDF membrane was probed with 0.5 µg/mL of Goat Anti-Mouse/Rat WNK1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2849) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # HAF109). A specific band was detected for WNK1 at approximately 230 kDa (as indicated). This experiment was conducted using <a class=

Goat Polyclonal
Species Mouse, Rat
Applications WB

5 Publications
Angiogenin [HRP]
DAN00
N/A Angiogenin [HRP]N/A Angiogenin [HRP]


Species Human
Applications ELISA

23 Publications
PTH Antibody (918462) [Unconjugated]
MAB7665
Western blot shows lysates of human parathyroid tissue. PVDF membrane was probed with 2 µg/mL of Mouse Anti-Human PTH Monoclonal Antibody (Catalog # MAB7665) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class=PTH was detected in immersion fixed paraffin-embedded sections of human parathyroid gland using Mouse Anti-Human PTH Monoclonal Antibody (Catalog # MAB7665) at 5 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Mouse HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Mouse Monoclonal
Species Human
Applications WB, IHC

TSC1 Antibody (OTI3A2)
NBP2-46234
Immunohistochemistry: TSC1 Antibody (3A2) [NBP2-46234] - Analysis of Adenocarcinoma of Human colon tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)Immunohistochemistry: TSC1 Antibody (3A2) [NBP2-46234] - Analysis of Carcinoma of Human prostate tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, IHC, IHC-P

BSND Antibody
NBP2-49101
Immunohistochemistry-Paraffin: BSND Antibody [NBP2-49101] - Staining in human kidney and liver tissues using NBP2-49101 antibody. Corresponding BSND RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: BSND Antibody [NBP2-49101] - Staining of human skeletal muscle shows no positivity in myocytes as expected.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

     1 Review

1 Publication
Glutamine Synthetase Antibody
NB110-41404
Western Blot: Glutamine Synthetase Antibody [NB110-41404] - Analysis of glutamine synthase. 40ug of lysates from mouse (Lanes M), rat (Lane R), pig (Lane P), bovine (Lane B), or human (Lane Hu) retina were probed. A 42 kDa band was identified in lysates from retinas of all species.Immunocytochemistry/Immunofluorescence: Glutamine Synthetase Antibody [NB110-41404] - Immunofluorescence using NB110-41404. Submitted via verified customer review.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

     1 Review

11 Publications
APC Antibody - BSA Free
NB100-91662
Western Blot: APC Antibody [NB100-91662] - Lane1:Hela cell lysate. Lane2:HEK293T cell lysate. Lane3:Rat testis tissue lysate. Immunocytochemistry/Immunofluorescence: APC Antibody [NB100-91662] - HeLa cells were fixed for 10 minutes using 10% formalin and then permeabilized for 5 minutes using 1X PBS + 0.05% Triton-X100. The cells were incubated with anti-APC Antibody at 2 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:500 dilution. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 40X objective.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC/IF

2 Publications
CLCNKB Antibody
NBP3-10348
Western Blot: CLCNKB Antibody [NBP3-10348] - Western blot analysis using NBP3-10348 on Human Jurkat as a positive control. Antibody Titration: 0.2-1 ug/ml

Rabbit Polyclonal
Species Human
Applications WB


Related Genes

Gitelman Syndrome has been researched against:

Related Pathways

Gitelman Syndrome has been linked to:

Related Diseases

Gitelman Syndrome has been studied in relation to diseases such as:

Related PTMs

Gitelman Syndrome has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Gitelman Syndrome is also known as gitelman syndrome, hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria, hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria, tubular hypomagnesemia-hypokalemia with hypocalcuria, familial hypokalemia-hypomagnesemia, potassium and magnesium depletion, renal tubular disorder, gs.