Target:BTR1
Gene Name:SLC4A11
Protein Name:Sodium bicarbonate transporter-like protein 11
Human Gene Id:83959
Human Swiss Prot No:Q8NBS3
Mouse Swiss Prot No:A2AJN7
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.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500 - 1:2000. ELISA: 1:20000. Not yet tested in other applications.
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
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
Observed Band(KD):100kD
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
Subcellular Location:Cell membrane ; Multi-pass membrane protein . Basolateral cell membrane ; Multi-pass membrane protein .
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).