| http://purl.uniprot.org/citations/20185830 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20185830 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20185830 | http://www.w3.org/2000/01/rdf-schema#comment | "Maintenance of ion concentration gradients is essential for the function of many organs, including the kidney, the cornea, and the inner ear. Ion concentrations and fluid content in the cornea are regulated by endothelial cells that separate the collagenous avascular corneal stroma from the anterior eye chamber. Failure to maintain correct ion concentrations leads to swelling and destruction of the cornea. In the inner ear, the stria vascularis is responsible for generating proper ion concentrations in the endolymph, which is essential for hearing. Mutations of SLC4A11 in humans lead to syndromes associated with corneal dystrophy and perceptive deafness. The molecular mechanisms underlying these symptoms are poorly understood, impeding therapeutic interventions. The ion transporter SLC4A11 mediates sodium-dependent transport of borate as well as flux of sodium and hydroxyl ions in vitro. Here, we show that SLC4A11 is expressed in the endothelial cells of the cornea where it prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, SLC4A11 is located in fibrocytes underlying the stria vascularis. Loss of SLC4A11 leads to morphological changes in the fibrocytes and deafness. We demonstrate that SLC4A11 is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, SLC4A11 is expressed in the thin descending limb of Henle loop. SLC4A11 is essential for urinary concentration, suggesting that SLC4A11 participates in the countercurrent multiplication that concentrates urine in the kidney medulla."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m109.094680"xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m109.094680"xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Braun T."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Braun T."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Boettger T."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Boettger T."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Kostin S."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Kostin S."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Maier H."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Maier H."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Frohlich H."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Frohlich H."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Groger N."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Groger N."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Olbrich A."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/author | "Olbrich A."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/pages | "14467-14474"xsd:string |
| http://purl.uniprot.org/citations/20185830 | http://purl.uniprot.org/core/pages | "14467-14474"xsd:string |