|Application ||WB, E|
|Other Accession||NP_114423, 83959, 269356 (mouse), 311423 (rat)|
|Reactivity||Human, Mouse, Rat|
|Calculated MW||99581 Da|
|Other Names||Sodium bicarbonate transporter-like protein 11, Bicarbonate transporter-related protein 1, Sodium borate cotransporter 1, NaBC1, Solute carrier family 4 member 11, SLC4A11, BTR1|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-SLC4A11 / BTR1 Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Transporter which plays an important role in sodium- mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter.|
|Cellular Location||Cell membrane. Membrane; Multi-pass membrane protein|
|Tissue Location||Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium Not detected in retina and lymphocytes|
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This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described.
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. Hemadevi B, et al. BMC Ophthalmol, 2010 Feb 10. PMID 20144242.
Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene. Mehta JS, et al. Cornea, 2010 Mar. PMID 20118786.
Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Aldahmesh MA, et al. Invest Ophthalmol Vis Sci, 2009 Sep. PMID 19369245.
Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy. Hemadevi B, et al. Arch Ophthalmol, 2008 May. PMID 18474783.
Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Shah SS, et al. Ophthalmic Genet, 2008 Mar. PMID 18363173.
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