Solute Carrier Family 13 (Sodium-Dependent Citrate Transporter), Member 5

Alternative Names

  • SLC13A5
  • Sodium-Coupled Citrate Transporter
  • NACT
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NCBI Gene ID

284111

Uniprot ID

Q86YT5

Length

28,651 bases

No. of Exons

12

No. of isoforms

4

Protein Name

Na(+)/citrate cotransporter

Molecular Mass

63,062 Da

Amino Acid Count

568

Genomic Location

chr17:6,684,719-6,713,369

Gene Map Locus
17p13.1

Description

This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_177550.5:c.1227dupSaudi ArabiaNC_000017.11:g.6693092dupPathogenicPathogenicDevelopmental and Epileptic Encephalopathy 25 with Amelogenesis ImperfectaNG_034220.1:g.25330dup; NM_177550.5:c.1227dup; NP_808218.1:p.Ile410HisfsTer131057518299373238
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