SLC13A5
SLC13A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | SLC13A5, EIEE25, NACT, mIndy, solute carrier family 13 member 5, INDY, DEE25 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 608305; MGI: 3037150; HomoloGene: 21941; GeneCards: SLC13A5; OMA:SLC13A5 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[5]
Function
SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.[5]
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.[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.
The site www.citratetransporterdisorders.org aims to unite families, doctors and researchers in their efforts to find treatment options.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000141485 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020805 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Solute carrier family 13 (sodium-dependent citrate transporter), member 5".
- ^ a b http://www.cell.com/ajhg/abstract/S0002-9297%2814%2900268-7
Further reading
- Pajor, A. M. (2005). "Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters". Pflügers Archiv - European Journal of Physiology. 451 (5): 597–605. doi:10.1007/s00424-005-1487-2. PMC 1866268. PMID 16211368.
- Inoue, K.; Zhuang, L.; Ganapathy, V. (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. PMID 12445824.
- Gopal, E.; Miyauchi, S.; Martin, P. M.; Ananth, S.; Srinivas, S. R.; Smith, S. B.; Prasad, P. D.; Ganapathy, V. (2006). "Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines". AJP: Gastrointestinal and Liver Physiology. 292 (1): G402–G408. doi:10.1152/ajpgi.00371.2006. PMID 16973915.
- Benjamin, D. J.; Cesarini, D.; Van Der Loos, M. J. H. M.; Dawes, C. T.; Koellinger, P. D.; Magnusson, P. K. E.; Chabris, C. F.; Conley, D.; Laibson, D.; Johannesson, M.; Visscher, P. M. (2012). "The genetic architecture of economic and political preferences". Proceedings of the National Academy of Sciences. 109 (21): 8026–8031. doi:10.1073/pnas.1120666109. PMC 3361436. PMID 22566634.
- Inoue, K.; Zhuang, L.; Maddox, D. M.; Smith, S. B.; Ganapathy, V. (2003). "Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action". Biochemical Journal. 374 (Pt 1): 21–26. doi:10.1042/BJ20030827. PMC 1223593. PMID 12826022.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.