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SLC13A5

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Identifiers
SymbolsSLC13A5 ; NACT
External IDsOMIM608305 HomoloGene21941 IUPHAR: 981 GeneCards: SLC13A5 Gene
Orthologs
SpeciesHumanMouse
Entrez284111237831
EnsemblENSG00000141485ENSMUSG00000020805
UniProtQ86YT5Q67BT3
RefSeq (mRNA)NM_001143838NM_001004148
RefSeq (protein)NP_001137310NP_001004148
Location (UCSC)Chr 17:
6.59 – 6.62 Mb
Chr 11:
72.24 – 72.27 Mb
PubMed search[1][2]

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

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.Template:Gene-17-stub