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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.[5] It is the mammalian homolog of the fly Indy gene.
In 2014, by means of exome sequencing it was determined that a genetic mutation of the SLC13A5 gene is the cause of a rare citrate transporter disorder.[6] Mutations in SLC13A5 cause autosomal 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 this gene is associated with longer lifespan in many organisms, including some non-human primates. 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.[7]
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): 465–71. doi:10.1016/S0006-291X(02)02669-4. PMID12445824.
Gopal E, Miyauchi S, Martin PM, Ananth S, Srinivas SR, Smith SB, Prasad PD, Ganapathy V (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): G402-8. doi:10.1152/ajpgi.00371.2006. PMID16973915. S2CID18725925.
This page was last edited on 22 February 2023, at 04:48