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SLC16A1

Chr 1p13.2

solute carrier family 16 member 1

Aliases:
MCT, MCT1
MANE:
ENST00000369626.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital hyperinsulinism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Ketotic hypoglycaemia

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

  • exercise-induced hyperinsulinism

    0.72
  • metabolic myopathy due to lactate transporter defect

    0.71
  • ketoacidosis due to monocarboxylate transporter-1 deficiency

    0.70
  • neurodegenerative disease

    0.51
  • inborn errors of metabolism

    0.37
  • Abnormality of refraction

    0.25
  • primary angle-closure glaucoma

    0.21
  • hereditary disease

    0.19
  • refractive error

    0.19
  • neoplasm

    0.12

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

Protein function (UniProt)

Monocarboxylate transporter 1

Bidirectional proton-coupled monocarboxylate transporter (PubMed:12946269, PubMed:32946811, PubMed:33333023). Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, acetate and the ketone bodies acetoacetate and beta-hydroxybutyrate, and thus contributes to the maintenance of intracellular pH (PubMed:12946269, PubMed:33333023). The transport direction is determined by the proton motive force and the concentration gradient of the substrate monocarboxylate. MCT1 is a major lactate exporter (By similarity). Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis (By similarity). Facilitates the protonated monocarboxylate form of succinate export, that its transient protonation upon muscle cell acidification in exercising muscle and ischemic heart (PubMed:32946811). Functions via alternate outward- and inward-open conformation states. Protonation and deprotonation of 309-Asp is essential for the conformational transition (PubMed:33333023)

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.