SLC13A5
Solute carrier family 13 (sodium-dependent citrate transporter), member 5 also known as the Na+/citrate cotransporter is a protein that in humans is encoded by the SLC13A5 gene.[1]
Function
SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.[1]
Clinical significance
In 2014, by means of exome sequencing it was determined that a genetic mutation of the SLC13A5 gene is the cause of an extremely rare citrate transporter disorder.[2]
Mutations in SLC13A5 cause autosomal recessive epileptic encephalopathy with seizure onset in the first days of life.[2] Those afflicted suffer from seizures, global developmental delay, movement disorder and hypotonia.
The site www.citratetransporterdisorders.org aims to unite families, doctors and researchers in their efforts to find treatment options.
References
Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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