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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Solute carrier family 4, sodium borate transporter, member 11

SLC4A11, CHED2, NABC1, BCAS1, BTR1
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)
Papers on SLC4A11
Depletion of SLC4A11 causes cell death by apoptosis in an immortalized human corneal endothelial cell line.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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.
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