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SLC25A13

Chr 7q21.3

solute carrier family 25 member 13

Aliases:
CITRIN, ARALAR2
MANE:
ENST00000265631.10
OMIM: 603859 ↗NCBI: 10165 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cholestasis

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Hyperammonaemia

    BIALLELIC, autosomal or pseudoautosomal

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal

  • Neonatal cholestasis

    BIALLELIC, autosomal or pseudoautosomal

  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Childhood onset dystonia, chorea or related movement disorder

  • Intellectual disability

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Disease associations (Open Targets)

  • neonatal intrahepatic cholestasis due to citrin deficiency

    0.80

  • citrullinemia type II

    0.76

  • citrin deficiency

    0.65

  • citrullinemia

    0.62

  • adult-onset citrullinemia type I

    0.50

  • citrullinemia type I

    0.46

  • osteoarthritis, knee

    0.45

  • osteoarthritis

    0.45

  • musculoskeletal system disorder

    0.40

  • Low back pain

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial

Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:38937634, PubMed:38945283, PubMed:39419476). Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction (PubMed:38937634). Also mediates the uptake of L-cysteinesulfinate (3-sulfino-L-alanine) by mitochondria in exchange for L-glutamate and proton (PubMed:11566871). Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation (PubMed:11566871). Lacks transport activity towards gamma-aminobutyric acid (GABA) (PubMed:38945283)

Diseases associated with SLC25A13

Curated MONDO disease pages that list SLC25A13 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.