Solute carrier family 13 (sodium-dependent citrate transporter), member 5 also known as theNa+/citrate cotransporter ormIndy is aprotein that in humans is encoded by the SLC13A5gene.[5] It is the mammalian homolog of the flyIndy gene.
In 2014, by means ofexome sequencing it was determined that a genetic mutation of the gene is the cause of a rareSLC13A5 Epilepsy.[6] Mutations in SLC13A5 causeautosomal recessive epileptic encephalopathy with seizure onset in the first days of life.[6] Those afflicted suffer from seizures, global developmental delay, movement disorder and hypotonia.
Reduced expression of homologous genes is associated with longer lifespan inDrosophila melanogaster andCaenorhabditis elegans,[7][8] and obesity protection inlaboratory mice.[9] 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 doesInterleukin 6 signaling.[10]
Inoue K, Zhuang L, Ganapathy V (December 2002). "Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function".Biochemical and Biophysical Research Communications.299 (3):465–471.doi:10.1016/S0006-291X(02)02669-4.PMID12445824.
Gopal E, Miyauchi S, Martin PM, Ananth S, Srinivas SR, Smith SB, et al. (January 2007). "Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines".American Journal of Physiology. Gastrointestinal and Liver Physiology.292 (1):G402 –G408.doi:10.1152/ajpgi.00371.2006.PMID16973915.S2CID18725925.
