SLC13A5
| SLC13A5 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | SLC13A5, EIEE25, NACT, mIndy, solute carrier family 13 member 5 | |||||
| External IDs | MGI: 3037150 HomoloGene: 21941 GeneCards: SLC13A5 | |||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 17: 6.68 – 6.71 Mb | Chr 11: 72.24 – 72.27 Mb | ||||
| PubMed search | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
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.[3]
Function
SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.[3]
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.[4]
Mutations in SLC13A5 cause autosomal recessive epileptic encephalopathy with seizure onset in the first days of life.[4] 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
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.