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Gene : SLC25A13 Homo sapiens

Name  ? solute carrier family 25 member 13 Cytological Location  7q21.3
Brief Description  solute carrier family 25 member 13
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. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
  • synonyms:
  • ARALAR2,
  • ARALAR2,
  • HGNC:10983,
  • mitochondrial aspartate glutamate carrier 2,
  • uc003uof.5,
  • CTLN2,
  • CITRIN,
  • AF118838,
  • CTLN2,
  • solute carrier family 25 (aspartate/glutamate carrier), member 13,
  • solute carrier family 25, member 13 (citrin),
  • CITRIN,
  • OTTHUMG00000023074,
  • NM_014251,
  • SLC25A13
  • identifiers:
  • 10165,
  • ENSG00000004864,
  • SLC25A13

Genome feature

Region: gene ? Length: 201928  
Location: 7:96120220-96322147 reverse strand Cyto location: 7q21.3


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Disease

2 Diseases

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624 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results