Anti-SLC12A2 antibody
Description
Application Data
Description
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Antibody raised against Solute Carrier Family 12 Member 2 (SLC12A2), a membrane-bound channel protein used to mediate sodium, potassium and chloride transport and reabsorption. It is essential in maintaining correct ionic balance and cell volume
Application Data
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Material Safety Data Sheet (MSDS)Catalogue number crb2005666 Antibody Anti-SLC12A2 antibody Antigen Peptide KLH conjugated synthetic peptide crb1200875e Protein ID P55011 SLC12A2 Aliases Solute carrier family 12 member 2, Basolateral Na-K-Cl symporter, Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 Host Species Rabbit Antibody Type Polyclonal Concentration 1.5mg/ml Glycine (R2G), 0.5mg/ml Glycine (R1G) Target SLC12A2 Storage Stabilisers The product should be stored at -20°C for short term storage and long term storage. Avoid repeated freeze/ thaw cycles. Family SLC12A transporter family Storage The product should be stored at -20°C for short term storage and long term storage. Avoid repeated freeze/ thaw cycles. References Delpire, E., et al. (2016). A patient with multisystem dysfunction carries a truncation mutation in humanSLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1. Molecular Case Studies, 2(6), p.a001289.
McNeill, A., et al. (2020). SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain, 143(8), pp.2380–2387.
Stödberg, T., Magnusson, M., Lesko, N., Wredenberg, A., Martin Munoz, D., Stranneheim, H. and Wedell, A. (2020). SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia. Neurology Genetics, 6(4), p.e478.
The SLC12 family consists of nine member proteins, SLCA1 through to SLC12A9. Solute Carrier Family 12 Member 2 (SLC12A2) encodes a protein used in mediating the cotransport and reabsorption of Na+, K+ and 2Cl– ions (NKCC), it is a membrane-bound symporter channel needed for both epithelial absorption and secretion of ions. SLC12A2 spans the membrane and is necessary in maintaining ionic balance, cell volume and overall homeostasis of a cell.
SLC12A2 is shown to be involved in neurodevelopment, specifically in the cortex, and is associated with neurodevelopmental disorders, with SLC12A2 mutation rate being significantly higher in individuals with neurodevelopmental issues. Additionally, mutations in SLC12A2 have been shown to cause issues with sensorineural pathways, causing hearing loss and deafness. Research into SLC12A2 and the SLC12 family as a whole could be beneficial in finding treatments for these complex neuronal issues.