Biology:SLC13A5
 Generic protein structure example |
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.[1] It is the mammalian homolog of the fly Indy gene.
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 gene is the cause of a rare SLC13A5 Epilepsy.[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.
Reduced expression of homologous genes is associated with longer lifespan in Drosophila melanogaster and Caenorhabditis elegans,[3][4] and obesity protection in laboratory mice.[5] 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.[6]
References
- ↑ 1.0 1.1 "Entrez Gene: Solute carrier family 13 (sodium-dependent citrate transporter), member 5". https://www.ncbi.nlm.nih.gov/gene/284111.
- ↑ 2.0 2.1 "Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life". American Journal of Human Genetics 95 (1): 113–120. July 2014. doi:10.1016/j.ajhg.2014.06.006. PMID 24995870.
- ↑ "Extended life-span conferred by cotransporter gene mutations in Drosophila". Science 290 (5499): 2137–2140. December 2000. doi:10.1126/science.290.5499.2137. PMID 11118146. Bibcode: 2000Sci...290.2137R.
- ↑ "Relevance of NAC-2, an Na+-coupled citrate transporter, to life span, body size and fat content in Caenorhabditis elegans". The Biochemical Journal 379 (Pt 1): 191–198. April 2004. doi:10.1042/bj20031807. PMID 14678010.
- ↑ "Deletion of the mammalian INDY homolog mimics aspects of dietary restriction and protects against adiposity and insulin resistance in mice". Cell Metabolism 14 (2): 184–195. August 2011. doi:10.1016/j.cmet.2011.06.009. PMID 21803289.
- ↑ "The human longevity gene homolog INDY and interleukin-6 interact in hepatic lipid metabolism". Hepatology 66 (2): 616–630. August 2017. doi:10.1002/hep.29089. PMID 28133767.
Further reading
- "Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters". Pflugers Archiv 451 (5): 597–605. February 2006. doi:10.1007/s00424-005-1487-2. PMID 16211368.
- "Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function". Biochemical and Biophysical Research Communications 299 (3): 465–471. December 2002. doi:10.1016/S0006-291X(02)02669-4. PMID 12445824.
- "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. January 2007. doi:10.1152/ajpgi.00371.2006. PMID 16973915.
- "The genetic architecture of economic and political preferences". Proceedings of the National Academy of Sciences of the United States of America 109 (21): 8026–8031. May 2012. doi:10.1073/pnas.1120666109. PMID 22566634. Bibcode: 2012PNAS..109.8026B.
- "Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action". The Biochemical Journal 374 (Pt 1): 21–26. August 2003. doi:10.1042/BJ20030827. PMID 12826022.
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.
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