SLC4A11 gene

solute carrier family 4 member 11

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Corneal dystrophy-perceptive deafness syndrome
  • Corneal dystrophy, Fuchs endothelial, 4
  • Corneal endothelial dystrophy

From UniProt:

Corneal endothelial dystrophy (CHED): A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. [MIM:217700]

Corneal dystrophy and perceptive deafness (CDPD): An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. [MIM:217400]

Corneal dystrophy, Fuchs endothelial, 4 (FECD4): A corneal disease 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. [MIM:613268]

Cytogenetic Location: 20p13, which is the short (p) arm of chromosome 20 at position 13

Molecular Location: base pairs 3,227,417 to 3,241,484 on chromosome 20 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 20p13, which is the short (p) arm of chromosome 20 at position 13
  • BTR1
  • CDPD1
  • CHED
  • CHED2
  • dJ794I6.2
  • NABC1