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SLC25A36

Chr 3q23

solute carrier family 25 member 36

Aliases:
FLJ10618, PNC2
MANE:
ENST00000324194.12

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

Disease associations (Open Targets)

  • hyperinsulinemic hypoglycemia, familial, 8

    0.57
  • neurodegenerative disease

    0.52
  • cholelithiasis

    0.20
  • myotonic syndrome

    0.20
  • adolescent idiopathic scoliosis

    0.05
  • hyperinsulinism

    0.02
  • Hyperammonemia

    0.02
  • Acute hepatic failure

    0.01
  • Global developmental delay

    0.01
  • colorectal cancer

    0.00

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

Protein function (UniProt)

Solute carrier family 25 member 36

Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Selectively transports cytosine, guanosine, inosine and uridine (deoxy)nucleoside mono-, di-, and triphosphates by antiport mechanism. Catalyzes uniport at much lower rate (PubMed:25320081). May import (deoxy)nucleoside triphosphates in exchange for intramitochondrial (deoxy)nucleoside mono- and diphosphates, thus providing precursors necessary for de novo synthesis of mitochondrial DNA and RNA while exporting products of their catabolism (PubMed:25320081). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration

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.