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Solute carrier family 4, sodium borate transporter, member 11

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 NCBI)
Top mentioned proteins: CHED, HAD, AGE, ACID, NBC
Papers on SLC4A11
Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.
Mootha et al., Dallas, United States. In Cornea, Feb 2016
Sanger sequencing established the diagnosis of congenital hereditary endothelial dystrophy by detection of a compound heterozygous mutation in SLC4A11.
The cytoplasmic domain is essential for transport function of the integral membrane transport protein SLC4A11.
Casey et al., Edmonton, Canada. In Am J Physiol Cell Physiol, Feb 2016
Here we studied SLC4A11, a membrane transport protein of corneal endothelial cells, the mutations of which cause genetic corneal blindness.
Sustained viral response and treatment-induced cytopenia correlate with SLCs and KLF12 genotypes in interferon/ribavirin-treated Chinese chronic hepatitis C patients.
Niu et al., Changchun, China. In J Gastroenterol Hepatol, Feb 2016
RESULTS: A higher rate of sustained viral response (SVR) was detected in patients with SLC4A11 rs3810560 CC variant versus TT/TC variant (76.9% vs. 59.2%;
High Throughput Assay Identifies Glafenine as a Corrector for the Folding Defect in Corneal Dystrophy-Causing Mutants of SLC4A11.
Casey et al., Edmonton, Canada. In Invest Ophthalmol Vis Sci, Jan 2016
Mutations of SLC4A11, a plasma membrane transport protein of the human corneal endothelial cell layer, cause cases of congenital hereditary endothelial dystrophy, Harboyan syndrome, and Fuchs' endothelial corneal dystrophy.
Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2).
Idrees et al., Lahore, Pakistan. In Clin Exp Optom, Sep 2015
BACKGROUND: Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a recessively inherited eye disorder that is more common in consanguineous populations.
[TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy].
Foja et al., Leipzig, Germany. In Klin Monbl Augenheilkd, Sep 2015
FECD is associated with various genes, e.g., COL8A2 or SLC4A11.
Human SLC4A11 Is a Novel NH3/H+ Co-transporter.
Obukhov et al., Indianapolis, United States. In J Biol Chem, Aug 2015
SLC4A11 has been proposed to be an electrogenic membrane transporter, permeable to Na(+), H(+) (OH(-)), bicarbonate, borate, and NH4 (+).
[The revised newest IC³D classification of corneal dystrophies].
Weiss et al., New Orleans, United States. In Klin Monbl Augenheilkd, Mar 2015
Congenital hereditary endothelial dystrophy (CHED, formerly CHED2) is an autosomal recessive disorder.
Fuchs Corneal Dystrophy.
Gottsch et al., Baltimore, United States. In Prog Mol Biol Transl Sci, 2014
Multiple chromosomal loci and, more recently, causal genetic mutations have been identified for this complex disorder, including in TCF8, SLC4A11, LOXHD1, and AGBL1.
Regulators of Slc4 bicarbonate transporter activity.
Bevensee et al., Birmingham, United States. In Front Physiol, 2014
The Slc4 family of transporters is comprised of anion exchangers (AE1-4), Na(+)-coupled bicarbonate transporters (NCBTs) including electrogenic Na/bicarbonate cotransporters (NBCe1 and NBCe2), electroneutral Na/bicarbonate cotransporters (NBCn1 and NBCn2), and the electroneutral Na-driven Cl-bicarbonate exchanger (NDCBE), as well as a borate transporter (BTR1).
SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
Parker et al., Buffalo, United States. In Biomed Res Int, 2014
Here we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED.
Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India.
Sharma et al., New Delhi, India. In Mol Vis, 2014
The aim of the study was to evaluate changes in ZEB1, COL8A2, SLC4A11, and TCF4 rs613872 and correlate them with clinical findings.
The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transporters.
Boron et al., Cleveland, United States. In Physiol Rev, 2013
The mammalian Slc4 (Solute carrier 4) family of transporters is a functionally diverse group of 10 multi-spanning membrane proteins that includes three Cl-HCO3 exchangers (AE1-3), five Na(+)-coupled HCO3(-) transporters (NCBTs), and two other unusual members (AE4, BTR1).
Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.
Kumar et al., Bengaluru, India. In Mol Vis, 2012
PURPOSE: Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene.
Depletion of SLC4A11 causes cell death by apoptosis in an immortalized human corneal endothelial cell line.
Vithana et al., Singapore, Singapore. In Invest Ophthalmol Vis Sci, 2012
SLC4A11 is necessary for cell survival and may explain the pathologic corneal endothelial cell loss in endotheliopathies due to SLC4A11 mutations.
Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
Casey et al., Edmonton, Canada. In Hum Mutat, 2012
The reduction in movement of WT SLC4A11 protein to the cell surface caused by Fuchs endothelial corneal dystrophy SLC4A11 helps to explain the dominant inheritance of this disorder.
A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies.
Casey et al., Edmonton, Canada. In Biochemistry, 2011
biochemical study of SLC4A11
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.
Katsanis et al., Baltimore, United States. In Hum Mutat, 2010
sequenced SLC4A11 in 192 sporadic and small nuclear late-onset Fuchs corneal dystrophy families and found seven heterozygous missense novel variations that were absent from ethnically matched controls
Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.
Vajpayee et al., New Delhi, India. In Mol Vis, 2009
The present study detected one novel and three reported changes, adding to the repertoire of mutations in SLC4A11, and recorded a high degree of genetic heterogeneity in Congenital Hereditary Endothelial Dystrophy.
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
Aung et al., Singapore, Singapore. In Nat Genet, 2006
describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive congenital hereditary endothelial dystrophy
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