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1 Finnish Genome Center and 2 Haartman Institute, University of Helsinki, 00014 Helsinki, Finland
Congenital chloride diarrhea (CLD) is a recessively
inherited disorder of intestinal electrolyte absorption that involves, specifically,
Cl
/HCO3
exchange. CLD is caused by mutations in a chromosome 7 gene, first
known as DRA (for
downregulated in adenoma). The disease occurs in all parts of the world
but is more common in some populations with genetic founder effects. More than 20 mutations in the gene are known to date. The
CLD (or
DRA) gene encodes a transmembrane
protein belonging to the sulfate transporter family with three known
members in humans, all associated with a distinct genetic disease.
Members of the gene family can transport other anions as well that may
turn out to be physiologically more important than sulfate transport.
The gene family is well conserved in many prokaryotic and eukaryotic species and is expected to be much larger than presently known.
autosomal recessive gene; anion exchanger; colon; acid-base balance
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