SLC4A11 Antibody – Rabbit Polyclonal

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]

SLC4A11: 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. 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. Defects in SLC4A11 are the cause of corneal dystrophy and perceptive deafness (CDPD); 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. Defects in SLC4A11 are the cause of corneal endothelial dystrophy type 2 (CHED2); also known as congenital hereditary endothelial dystrophy of cornea. This bilateral corneal dystrophy is characterized by corneal opacification and nystagmus. Inheritance is autosomal recessive. Defects in SLC4A11 are the cause of corneal dystrophy Fuchs endothelial type 4 (FECD4); also known as Corneal dystrophy Fuchs endothelial late-onset. It is an ocular disorder caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. Belongs to the anion exchanger (TC 2.A.31) family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 20p12

Cellular Component: integral to plasma membrane; basolateral plasma membrane

Molecular Function: protein dimerization activity; bicarbonate transmembrane transporter activity; inorganic anion exchanger activity; symporter activity; boron transporter activity; hydrogen ion channel activity; sodium channel activity

Biological Process: proton transport; fluid transport; cellular cation homeostasis; bicarbonate transport; sodium ion transport; regulation of intracellular pH; boron transport

Disease: Corneal Dystrophy And Perceptive Deafness; Corneal Dystrophy, Fuchs Endothelial, 4; Corneal Endothelial Dystrophy 2, Autosomal Recessive