Symbol: Name: ID: |
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 GFS:5547 |
Gene name: | SLC4A11 |
Chromosome: | 20p12 |
Previous Symbols: | CHED2 |
Previous Names: | corneal endothelial dystrophy 2 (autosomal recessive), "solute carrier family 4, sodium bicarbonate transporter-like, member 11" |
Aliases: | dJ794I6.2, BTR1, NaBC1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2138987 | Rat Genome Database ID: | RGD:1310188 |
HGNC ID: | HGNC:16438 | RefSeq IDs: | NM_001174089 |
Entrez Gene ID: | 83959 | Ensembl Gene ID: | ENSG00000088836 |
VEGA IDs: | OTTHUMG00000031740 | UniProt ID: | Q8NBS3 |
UCSC ID: | uc002wig.2 | OMIM ID: | 610206 |
Pubmed: | PMID10843999 PMID 11302728 PMID 16767101 | ||
CCDS IDs: | CCDSCCDS13052.1 |
Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 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].
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.
Products for SLC4A11 gene
Catalog | Product Name | Application | Company |
GFS:E05547 | solute carrier family 4, sodium borate transporter, member 11; ELISA kit | ELISA | n/a |
GFS:A05547 | solute carrier family 4, sodium borate transporter, member 11; Anti | ANTIBODIES | n/a |
GFS:P05547 | solute carrier family 4, sodium borate transporter, member 11; Protien | Protien | n/a |