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SLC25A42

Chr 19p13.11

solute carrier family 25 member 42

Aliases:
MGC26694
MANE:
ENST00000318596.8

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Possible mitochondrial disorder - nuclear genes

    BIALLELIC, autosomal or pseudoautosomal
  • Congenital myopathy

    BIALLELIC, autosomal or pseudoautosomal
  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression

    0.72
  • Mitochondrial myopathy

    0.53
  • neurodegenerative disease

    0.43
  • hereditary disease

    0.34
  • inborn mitochondrial myopathy

    0.27
  • gastric cancer

    0.07
  • metabolic disease

    0.04
  • neoplasm

    0.02
  • mitochondrial encephalomyopathy

    0.02
  • Epileptic encephalopathy

    0.02

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

Protein function (UniProt)

Mitochondrial coenzyme A transporter SLC25A42

Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate

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.