Solute Carrier Family 25 (Citrin), Member 13

Alternative Names

  • SLC25A13
  • Citrin
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OMIM Number

603859

NCBI Gene ID

10165

Uniprot ID

Q9UJS0

Length

201,879 bases

No. of Exons

21

No. of isoforms

2

Protein Name

Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial

Molecular Mass

74176 Da

Amino Acid Count

675

Genomic Location

chr7:96,120,220-96,322,098

Gene Map Locus
7q21.3

Description

This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014251.3:c.1177+1G>AQatarNC_000007.14:g.96184276C>TPathogenicPathogenicNG_012247.2:g.142872G>A; NM_014251.3:c.1177+1G>A; NP_055066.1:p.?803387226002
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