SLC26A3 c.392C>G (p.P131R) can reduce the expression of SLC26A3 protein increase the monolayer permeability of intestinal epithelial cells and thus lead to diarrhea
Decreased SLC26A3 expression and function in intestinal epithelial cells in response to Cryptosporidium parvum infection has been reported in humans and mice.
Genetic analysis of SLC26A3 provided definitive diagnosis of CCD. In contrast with previously reported localities c.2063-1g>t might be a founder mutation in East Asia.
study found that the rs2108225 variation in SLC26A3 might increase the risk of ulcerative colitis (UC) and affect its expression at both the mRNA and protein levels in colonic tissues of patients with UC; the rs17154444 variation might influence the severity of UC
Molecular analysis of human solute carrier SLC26A2 SLC26A3 and SLC26A4 anion transporter disease-causing mutations using 3-dimensional homology modeling has been presented.
In intestinal cells TNF activates NF-kappaB which reduces expression of the Cl(-) / HCO3(-) exchanger SLC26A3 via direct binding to the promoter region.
This study confirms the molecular heterogeneity of sporadic congenital chloride diarrhea adding 12 novel SLC26A3 mutations to the list of known pathogenic mutations.
We report the first Tunisian case of SLC26A3 gene mutation in congenital chloride diarrhea. Our patient was homozygous for G187X mutation. Both parents were heterozygous for the same mutation.
Results indicate the involvement of SLC26A3 along with SLC26A6 in transporting HCO3(-) essential for embryo cleavage possibly working in concert with CFTR through a Cl(-) recycling pathway.
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