SLC25A13

Chr 7

solute carrier family 25 member 13

Also known as: ARALAR2, CITRIN, CTLN2, NICCD

NCBI Gene: 10165 ENSG00000004864 UniProt: Q9UJS0

The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane and is stimulated by calcium. Mutations cause citrullinemia type II, which can present as either a neonatal-onset or adult-onset form, inherited in an autosomal recessive pattern. The pathogenic mechanism involves gain-of-function effects.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCitrin deficiency, adolescent or adult onset

UniProtCitrin deficiency, neonatal or infantile onset

Clinical highlights

Gene-disease validity (ClinGen)

citrin deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.24

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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