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SLC25A13

Tuesday 9 March 2010

SLC25A13 was found to encode a 675-amino acid protein with a molecular mass of 74 kD.

The protein, termed citrin, is bipartite in structure, containing a mitochondrial carrier motif and 4 EF-hand domains. Northern blot analysis detected ubiquitous expression of a 3.4-kb transcript, with highest expression in liver.

Pathology

- germline mutation in

  • citrin deficiency
  • adult-onset type II citrullinemia (MIM.603471)

Adult-onset type II citrullinemia is caused by mutation in the SLC25A13 gene (MIM.603859).

Neonatal-onset type II citrullinemia (MIM.605814) is caused by mutation in the same gene SLC25A13.

Nota bene: Classic citrullinemia (CTLN1; MIM.215700) is caused by mutation in the gene encoding argininosuccinate synthetase (ASS; 603470).