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SLC25A24

Chr 1p13.3

solute carrier family 25 member 24

Aliases:
DKFZp586G0123, APC1, SCAMC1, SCAMC-1
MANE:
ENST00000565488.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Likely inborn error of metabolism

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Mitochondrial disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

  • Pneumothorax - familial

Disease associations (Open Targets)

  • Fontaine progeroid syndrome

    0.79
  • Progeroid syndrome, Petty type

    0.63
  • cervical carcinoma

    0.33
  • Bilateral tonic-clonic seizure

    0.30
  • dementia

    0.30
  • viral pneumonia

    0.26
  • hereditary disease

    0.19
  • liver disorder

    0.09
  • pericarditis

    0.09
  • inflammatory bowel disease

    0.08

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

Protein function (UniProt)

Mitochondrial adenyl nucleotide antiporter SLC25A24

Electroneutral antiporter that mediates the transport of adenyl nucleotides through the inner mitochondrial membrane. Originally identified as an ATP-magnesium/inorganic phosphate antiporter, it also acts as a broad specificity adenyl nucleotide antiporter. By regulating the mitochondrial matrix adenyl nucleotide pool, could adapt to changing cellular energetic demands and indirectly regulate adenyl nucleotide-dependent metabolic pathways (PubMed:15123600, PubMed:22015608). In vitro, a low activity is also observed with guanyl and pyrimidine nucleotides (PubMed:15123600). May play a role in protecting cells against oxidative stress-induced cell death, by buffering calcium levels in the mitochondrial matrix through the formation of calcium-phosphate precipitates (PubMed:22015608, PubMed:29100093)

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.