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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.

Gitelman Syndrome Bioinformatics Tool

Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Gitelman Syndrome below! For more information on how to use Laverne, please read the How to Guide.
Vizit™, under license from BioVista Inc.

Top Research Reagents

We have 754 products for the study of Gitelman Syndrome that can be applied to Western Blot, Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry from our catalog of antibodies and ELISA kits.

NBP1-86376
Immunohistochemistry-Paraffin: SLC12A3 Antibody [NBP1-86376] - Staining of human lymph node shows low expression as expected.Immunohistochemistry-Paraffin: SLC12A3 Antibody [NBP1-86376] - Staining of human kidney shows high expression.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

1 Publication
H00001188-P01
12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human

NBP1-80993
Immunocytochemistry/Immunofluorescence: NKCC2/SLC12A1 Antibody [NBP1-80993] - Staining of human cell line RPTEC TERT1 shows localization to nucleus & vesicles. Antibody staining is shown in green.Immunohistochemistry-Paraffin: NKCC2/SLC12A1 Antibody [NBP1-80993] - Staining in human kidney and lymph node tissues using anti-SLC12A1 antibody. Corresponding SLC12A1 RNA-seq data are presented for the same tissues.

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

1 Publication
NB110-41404
Western Blot: Glutamine Synthetase Antibody [NB110-41404] - Analysis of glutamine synthase. 40ug of lysates from mouse (Lanes M), rat (Lanes R), pig (Lanes P), bovine (Lanes B), or human (Lanes Hu) retina were probed. A 42 kDa band was identified in lysates from retinas of all species.Immunohistochemistry: Glutamine Synthetase Antibody [NB110-41404] - Localization of glutamine synthase in the retina. Paraffin sections of mouse (A, B), rat (C, D, G-I), or human (E, F) retina fixed in 4% paraformaldehyde were reacted with anti-glutamine synthase (red fluorescence staining in B, D, G, I, and brown immuno-peroxidase reaction [using ABC kit and visualization with DAB product in F]. Nuclei in some immunofluorescence experiments (A-D) were stained with DAPI (shown in cyan), and with nuclear fast red in E and F.  On inspection at low magnification, anti- glutamine synthase reacted with a single population of cells extending from the ganglion cell layer (GCL) through the inner nuclear layer (INL). No signal was detected in controls either pre-incubated with 100ug/ml of the immunizing peptide (A) or with pre-immune serum (C, E). The pattern of staining observed in all experiments is typicals. This finding was confirmed by co-localization (indicated by yellow in I) of glutamine synthase (red in G) with antoher marker of glutamine synthase (green in H).

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, IHC

     1 Review

4 Publications
NB100-91662
Western Blot: APC Antibody [NB100-91662] - Lane1:Hela cell lysate.  Lane2:HEK293T cell lysate.  Lane3:Rat testis tissue lysate.  Immunohistochemistry-Paraffin: APC Antibody [NB100-91662] - IHC-P analysis of a formalin fixed paraffin embedded tissue section of human colon cancer xenograft using 1: 50 dilution of APC antibody.

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

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=NoLineLink href=

Goat Polyclonal
Species Mouse
Applications WB, IHC, IP

3 Publications
NBP1-82874
Immunohistochemistry-Paraffin: KCNJ1 Antibody [NBP1-82874] - Staining of human lymph node shows low expression as expected.Immunohistochemistry-Paraffin: KCNJ1 Antibody [NBP1-82874] - Staining of human kidney shows high expression.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

2 Publications
NBP2-13426
Immunocytochemistry/Immunofluorescence: tescalcin Antibody [NBP2-13426] - Immunofluorescent staining of human cell line A549 shows localization to nucleoplasm & cytosol. Antibody staining is shown in green.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.

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

MAB4379
Western blot shows lysates of HeLa human cervical epithelial carcinoma cell line and PC‑3 human prostate cancer cell line. PVDF Membrane was probed with 1 µg/mL of Human TSC1 Monoclonal Antibody (Catalog # MAB4379) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <A class=NoLineLink href=Jurkat human acute T cell leukemia cell line was stained with Human TSC1 Monoclonal Antibody (Catalog # MAB4379, filled histogram) or isotype control antibody (Catalog # <A class=NoLineLink href=

Mouse Monoclonal
Species Human
Applications WB, CyTOF-ready, ICFlow

1 Publication
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

6 Publications
NB100-214
Western Blot: Blooms Syndrome Protein Blm Antibody [NB100-214] - Whole cell lysate from HeLa (5, 15 and 50 ug) and 293T (T; 50 ug) cells. Antibody used at 0.1 ug/ml.Western Blot: Blooms Syndrome Protein Blm Antibody [NB100-214] - Whole cell lysate (1 mg for IP; 20% of IP loaded) from HeLa cells.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, IP

5 Publications
NBP2-35212
SDS-Page: Human PTH Protein [NBP2-35212]


Species Human

NBP2-62634
Immunohistochemistry-Paraffin: BSND Antibody [NBP2-62634] - Staining of human gastrointestinal shows no positivity as expected.Immunohistochemistry-Paraffin: BSND Antibody [NBP2-62634] - Analysis in human kidney and liver tissues.  Corresponding BSND RNA-seq data are presented for the same tissues.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

NBP2-38777
Immunohistochemistry-Paraffin: Claudin-16 Antibody [NBP2-38777] - Staining of human lymph node shows low expression as expected.Immunohistochemistry-Paraffin: Claudin-16 Antibody [NBP2-38777] - Staining of human kidney shows high expression.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

NB600-225
Western Blot: WNK1 Antibody [NB600-225] - Detection of the short form of WNK1 in F-11 cell lysate.Immunocytochemistry/Immunofluorescence: WNK1 Antibody [NB600-225] - WNK1 antibody was tested in HEK293 cells with DyLight 488 (green). Nuclei and alpha-tubulin were counterstained with DAPI (blue) and Dylight 550 (red).

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

1 Publication
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
Applications WB, Flow, ICC/IF

NBP1-86892
Western Blot: TRP2 Antibody [NBP1-86892] - Lane 1: Marker [kDa] 250, 130, 95, 72, 55, 36, 28, 17, 10. Lane 2: Negative control (vector only transfected HEK293T lysate). Lane 3: Over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunohistochemistry-Paraffin: TRP2 Antibody [NBP1-86892] - Staining of human skeletal muscle shows low expression as expected.

Rabbit Polyclonal
Species Human
Applications WB, IHC, IHC-P

1 Publication
H00140803-R03
Other TRPM6 RNAi


Species Human


Related Genes

Gitelman Syndrome has been researched against:

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.