SLC13A5

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Solute carrier family 13 (sodium-dependent citrate transporter), member 5
Identifiers
Symbols SLC13A5 ; NACT
External IDs OMIM608305 HomoloGene21941 GeneCards: SLC13A5 Gene
Orthologs
Species Human Mouse
Entrez 284111 237831
Ensembl ENSG00000141485 ENSMUSG00000020805
UniProt Q86YT5 Q67BT3
RefSeq (mRNA) NM_001143838 NM_001004148
RefSeq (protein) NP_001137310 NP_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[edit]

SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.[1]

Clinical significance[edit]

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[edit]

Further reading[edit]

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