SLC13A5

Solute carrier family 13 (sodium-dependent citrate transporter), member 5 also known as the Na⁺/citrate cotransporter or mIndy is a protein that in humans is encoded by the SLC13A5 gene. It is the mammalian homolog of the fly Indy gene.

Function

SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.

Clinical significance

In 2014, by means of exome sequencing it was determined that a genetic mutation of the gene is the cause of a rare SLC13A5 Epilepsy. Mutations in SLC13A5 cause autosomal recessive epileptic encephalopathy with seizure onset in the first days of life. Those afflicted suffer from seizures, global developmental delay, movement disorder and hypotonia.

Reduced expression of homologous genes is associated with longer lifespan in Drosophila melanogaster and Caenorhabditis elegans, and obesity protection in laboratory mice. Increased expression is associated with type 2 diabetes and non-alcoholic fatty liver disease. A sugary diet upregulates the expression of the gene, and so does Interleukin 6 signaling.

External links

• tessresearch.org - A foundation dedicated to SLC13A5 disorders.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.