SLC13A5: Difference between revisions

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== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Pajor AM | title = Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters | journal = Pflugers Archiv | volume = 451 | issue = 5 | pages = 597–605 | date = February 2006 | pmid = 16211368 | pmc = 1866268 | doi = 10.1007/s00424-005-1487-2 }}
* {{cite journal | vauthors = Pajor AM | title = Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters | journal = Pflügers Archiv | volume = 451 | issue = 5 | pages = 597–605 | date = February 2006 | pmid = 16211368 | pmc = 1866268 | doi = 10.1007/s00424-005-1487-2 }}
* {{cite journal | vauthors = Inoue K, Zhuang L, Ganapathy V | title = Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function | journal = Biochemical and Biophysical Research Communications | volume = 299 | issue = 3 | pages = 465–71 | date = December 2002 | pmid = 12445824 | doi = 10.1016/S0006-291X(02)02669-4 }}
* {{cite journal | vauthors = Inoue K, Zhuang L, Ganapathy V | title = Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function | journal = Biochemical and Biophysical Research Communications | volume = 299 | issue = 3 | pages = 465–71 | date = December 2002 | pmid = 12445824 | doi = 10.1016/S0006-291X(02)02669-4 }}
* {{cite journal | vauthors = Gopal E, Miyauchi S, Martin PM, Ananth S, Srinivas SR, Smith SB, Prasad PD, Ganapathy V | title = Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines | journal = American Journal of Physiology. Gastrointestinal and Liver Physiology | volume = 292 | issue = 1 | pages = G402-8 | date = January 2007 | pmid = 16973915 | pmc =  | doi = 10.1152/ajpgi.00371.2006 }}
* {{cite journal | vauthors = Gopal E, Miyauchi S, Martin PM, Ananth S, Srinivas SR, Smith SB, Prasad PD, Ganapathy V | title = Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines | journal = American Journal of Physiology. Gastrointestinal and Liver Physiology | volume = 292 | issue = 1 | pages = G402-8 | date = January 2007 | pmid = 16973915 | pmc =  | doi = 10.1152/ajpgi.00371.2006 }}
* {{cite journal | vauthors = Benjamin DJ, Cesarini D, van der Loos MJ, Dawes CT, Koellinger PD, Magnusson PK, Chabris CF, Conley D, Laibson D, Johannesson M, Visscher PM | title = The genetic architecture of economic and political preferences | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 109 | issue = 21 | pages = 8026–31 | date = May 2012 | pmid = 22566634 | pmc = 3361436 | doi = 10.1073/pnas.1120666109 }}
* {{cite journal | vauthors = Benjamin DJ, Cesarini D, van der Loos MJ, Dawes CT, Koellinger PD, Magnusson PK, Chabris CF, Conley D, Laibson D, Johannesson M, Visscher PM | title = The genetic architecture of economic and political preferences | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 109 | issue = 21 | pages = 8026–31 | date = May 2012 | pmid = 22566634 | pmc = 3361436 | doi = 10.1073/pnas.1120666109 | url = https://dash.harvard.edu/bitstream/handle/1/10121961/Benjamin_GeneticArchitecture.pdf?sequence=1 }}
* {{cite journal | vauthors = Inoue K, Zhuang L, Maddox DM, Smith SB, Ganapathy V | title = Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action | journal = The Biochemical Journal | volume = 374 | issue = Pt 1 | pages = 21–6 | date = August 2003 | pmid = 12826022 | pmc = 1223593 | doi = 10.1042/BJ20030827 }}
* {{cite journal | vauthors = Inoue K, Zhuang L, Maddox DM, Smith SB, Ganapathy V | title = Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action | journal = The Biochemical Journal | volume = 374 | issue = Pt 1 | pages = 21–6 | date = August 2003 | pmid = 12826022 | pmc = 1223593 | doi = 10.1042/BJ20030827 }}
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[[Category:Solute carrier family]]
[[Category:Solute carrier family]]


{{gene-17-stub}}
{{gene-17-stub}}

Latest revision as of 01:09, 24 October 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[1]

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 SLC13A5 gene is the cause of an extremely rare citrate transporter disorder.[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.

The site www.citratetransporterdisorders.org aims to unite families, doctors and researchers in their efforts to find treatment options.

References

  1. 1.0 1.1 "Entrez Gene: Solute carrier family 13 (sodium-dependent citrate transporter), member 5".
  2. 2.0 2.1 http://www.cell.com/ajhg/abstract/S0002-9297%2814%2900268-7

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.