SLC13A5

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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)

NM_001143838
NM_001284509
NM_001284510
NM_177550

NM_001004148

RefSeq (protein)

NP_001137310
NP_001271438
NP_001271439
NP_808218

NP_001004148.1
NP_001004148

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[edit]

SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.[3]

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.[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[edit]

Further reading[edit]

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