ArticleThe Journal of biological chemistry2010
SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria.
Article in The Journal of biological chemistry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- The Cochlear Lateral Wall as a Biological Battery: the Mechanisms Underlying KJournal of the Association for Research in Otolaryngology : JARO · 2026Review
- High expression of the underexplored SLC4A11 protein-coding transcript is specific to the corneal endothelium.Scientific reports · 2026Article
- Article
- Review
- Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease.Scientific reports · 2025Article
- NHFrontiers in physiology · 2024Article
- Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome.Arquivos brasileiros de oftalmologia · 2024Article
- Secondary childhood glaucoma in neurofibromatosis type 1: an unusual corneal leukoma case report.Frontiers in oncology · 2024Article
- Non-Aquaporin Water Channels.Advances in experimental medicine and biology · 2023Article
- Genome-wide characterization of the Triplophysa dalaica slc4 gene family and expression profiles in response to salinity changes.BMC genomics · 2022Article
- The HCells · 2022Review
- The Roles of Solute Carriers in Auditory Function.Frontiers in genetics · 2022Review
- Mitochondrial Targeting of the Ammonia-Sensitive Uncoupler SLC4A11 by the Chaperone-Mediated Carrier Pathway in Corneal Endothelium.Investigative ophthalmology & visual science · 2021Article
- Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.Journal of human genetics · 2021Observational
- Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.Progress in retinal and eye research · 2021Review
- pH dependence of the Slc4a11-mediated HAmerican journal of physiology. Cell physiology · 2020Article
- SLC4A11 function: evidence for HAmerican journal of physiology. Cell physiology · 2020Article
- Evolutionary Basis of High-Frequency Hearing in the Cochleae of Echolocators Revealed by Comparative Genomics.Genome biology and evolution · 2020Article
- Slc4a11 disruption causes duct cell loss and impairs NaCl reabsorption in female mouse submandibular glands.Physiological reports · 2019Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.