Molecular weight (DA)
100kD
Immunogen
The antiserum was produced against synthesized peptide derived from human SLC4A11. AA range:291-340
Specificity
BTR1 Polyclonal Antibody detects endogenous levels of BTR1 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/20000. Not yet tested in other applications.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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. [provided by RefSeq, Mar 2010],
Function
disease:Defects in SLC4A11 are the cause of corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]; also known as corneal dystrophy and sensorineural deafness or Harboyan syndrome. CDPD consists of congenital corneal endothelial dystrophy and progressive perceptive deafness. Inheritance is autosomal recessive.,disease:Defects in SLC4A11 are the cause of corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]; also known as congenital hereditary endothelial dystrophy of cornea. This bilateral corneal dystrophy is characterized by corneal opacification and nystagmus. Inheritance is autosomal recessive.,function:Transporter 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.,PTM:Glycosylated.,similarity:Belongs to the anion exchanger (TC
Protein name
Sodium bicarbonate transporter-like protein 11
Other name
SLC4A11; BTR1; Sodium bicarbonate transporter-like protein 11; Bicarbonate transporter-related protein 1; Sodium borate cotransporter 1; NaBC1; Solute carrier family 4 member 11
Human protein sequence Database
Q8NBS3
Mouse protein sequence database
A2AJN7
Rat protein sequence database
Cellular localization
Cell membrane ; Multi-pass membrane protein . Basolateral cell membrane ; Multi-pass membrane protein .
Tissue expression
Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes. ; [Isoform 3]: Expressed in corneal endothelium (at protein level). ; [Isoform 5]: The predominant isoform in corneal endothelium (at protein level).
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