Property Summary

NCBI Gene PubMed Count 45
Grant Count 32
R01 Count 23
Funding $6,554,495.13
PubMed Score 71.04
PubTator Score 70.70

Knowledge Summary

Patent

No data available

Expression

Gene RIF (36)

PMID Text
26619383 we report posterior polymorphous corneal dystrophy resulting from a de novo mutation in ZEB1. Additionally, we present a congenital hereditary endothelial dystrophy case with a thin Descemet membrane with a novel compound heterozygous SLC4A11 mutation.
26451371 we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED. [review]
26018076 SLC4A11 is a novel NH3/H+ co-transporter.
25811729 We found that cells containing mutant SLC4A11 are more vulnerable to oxidative and mitochondrial damage, less able to overcome oxidative stress through the expression of sufficient levels of antioxidant genes, and are more prone to apoptotic death.
25500497 In contrast to the Slc4a11(-/-) mouse, no abnormalities in daily renal ion excretion or polyuria were observed in the Harboyan syndrome patient.
25394471 Potential therapeutic agents to improve the functional impairment of specific SLC4A11 mutant transporters.
25138764 We have described three affected siblings from a non-consanguineous family with Corneal Endothelial Dystrophy 2.
25007886 SLC4A11 mutations contribute to 11% (5/45) of sporadic late-onset Late-onset Fuchs endothelial corneal dystrophy (FECD) in the cohort studied.
24502824 We report a novel nonsense mutation of the SLC4A11 gene in the patient with CHED2. In addition, one of heterozygous carriers in this family showed features of late onset Fuchs endothelial corneal dystrophy.
24351571 Our observations suggest that congenital hereditary endothelial dystrophy caused by homozygous SLC4A11 mutations progresses to Harboyan syndrome, but the severity of this may vary considerably.
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AA Sequence

MSQVGGRGDRCTQEVQGLVHGAGDLSASLAENSPTMSQNGYFEDSSYYKCDTDDTFEAREEILGDEAFDT      1 - 70
ANSSIVSGESIRFFVNVNLEMQATNTENEATSGGCVLLHTSRKYLKLKNFKEEIRAHRDLDGFLAQASIV     71 - 140
LNETATSLDNVLRTMLRRFARDPDNNEPNCNLDLLMAMLFTDAGAPMRGKVHLLSDTIQGVTATVTGVRY    141 - 210
QQSWLCIICTMKALQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDIA    211 - 280
FRQKLLETRTEEEFKEALVHQRQLLTMVSHGPVAPRTKERSTVSLPAHRHPEPPKCKDFVPFGKGIREDI    281 - 350
ARRFPLYPLDFTDGIIGKNKAVGKYITTTLFLYFACLLPTIAFGSLNDENTDGAIDVQKTIAGQSIGGLL    351 - 420
YALFSGQPLVILLTTAPLALYIQVIRVICDDYDLDFNSFYAWTGLWNSFFLALYAFFNLSLVMSLFKRST    421 - 490
EEIIALFISITFVLDAVKGTVKIFWKYYYGHYLDDYHTKRTSSLVSLSGLGASLNASLHTALNASFLASP    491 - 560
TELPSATHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVREILSDCALPIAVLAFSLISSHGFRE    561 - 630
IEMSKFRYNPSESPFAMAQIQSLSLRAVSGAMGLGFLLSMLFFIEQNLVAALVNAPENRLVKGTAYHWDL    631 - 700
LLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYDTIVNVKETRLTSLGASVLVGLSLL    701 - 770
LLPVPLQWIPKPVLYGLFLYIALTSLDGNQLVQRVALLLKEQTAYPPTHYIRRVPQRKIHYFTGLQVLQL    771 - 840
LLLCAFGMSSLPYMKMIFPLIMIAMIPIRYILLPRIIEAKYLDVMDAEHRP                       841 - 891
//

Text Mined References (49)

PMID Year Title
26619383 2016 Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.
26451371 2015 SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
26286922 2016 Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2).
26018076 2015 Human SLC4A11 Is a Novel NH3/H+ Co-transporter.
25811729 2015 Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults.
25500497 2015 Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.
25394471 2015 Human SLC4A11-C functions as a DIDS-stimulatable H?(OH?) permeation pathway: partial correction of R109H mutant transport.
25138764 2014 Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy.
25007886 2014 Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.
24502824 2015 Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
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