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SLC25A32

Chr 8q22.3

solute carrier family 25 member 32

Aliases:
MFTC
MANE:
ENST00000297578.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

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

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary ataxia with onset in adulthood

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • exercise intolerance, riboflavin-responsive

    0.64
  • spina bifida

    0.63
  • multiple acyl-CoA dehydrogenase deficiency, mild type

    0.37
  • folate deficiency

    0.34
  • neurodegenerative disease

    0.32
  • Familial prostate cancer

    0.11
  • prostate cancer

    0.11
  • acute tonsillitis

    0.11
  • cancer

    0.10
  • neoplasm

    0.08

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

Protein function (UniProt)

Solute carrier family 25 member 32

Facilitates flavin adenine dinucleotide (FAD) translocation across the mitochondrial inner membrane into the mitochondrial matrix where it acts as a redox cofactor to assist flavoenzyme activities in fundamental metabolic processes including fatty acid beta-oxidation, amino acid and choline metabolism as well as mitochondrial electron transportation. In particular, provides FAD to DLD dehydrogenase of the glycine cleavage system, part of mitochondrial one-carbon metabolic pathway involved in neural tube closure in early embryogenesis

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.