Entrez 284111 | Ensembl ENSG00000141485 | |
Aliases SLC13A5, EIEE25, NACT, mIndy, solute carrier family 13 member 5 External IDs MGI: 3037150 HomoloGene: 21941 GeneCards: 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.
Contents
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 SLC13A5 gene is the cause of an extremely rare citrate transporter disorder.
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.
The site www.citratetransporterdisorders.org aims to unite families, doctors and researchers in their efforts to find treatment options.