Product Description

S12A1 Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES13272-50, ES13272-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

Background: This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010],

Reactivity: Human, Mouse, Rat

Host: Rabbit

Applications: WB

Clonality: Polyclonal

Immunogen: Synthesized peptide derived from human S12A1 AA range: 595-645

Isotype: IgG

Target: S12A1

Specificity: This antibody detects endogenous levels of S12A1 at Human/Mouse/Rat

Dilution: WB 1：500-2000

Purification: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Expression: Kidney, localizes to the thick ascending limbs (at protein level),

Molecular Weight (Da): 121kD

Function: Disease: Defects in SLC12A1 are the cause of Bartter syndrome type 1 (BS1) [MIM: 601678]. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of BS1 is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia
Function: Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume
Similarity: Belongs to the SLC12A transporter family
Tissue Specificity: Kidney specific

Subcellular Location: Apical cell membrane, Multi-pass membrane protein

Storage and Stability: -20°C/1 year

Gene Name: SLC12A1 NKCC2

Protein Name: S12A1

Mouse Gene ID: 20495

Mouse SwissProt Number: P55014

Rat SwissProt Number: P55016

Research Use Only