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SLC30A10

Chr 1q41

solute carrier family 30 member 10

Aliases:
DKFZp547M236, ZnT-10, ZRC1, ZNT8, ZNT10
MANE:
ENST00000366926.4

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset dystonia, chorea or related movement disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset dystonia

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary Erythrocytosis

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Parkinson Disease and Complex Parkinsonism

    BIALLELIC, autosomal or pseudoautosomal
  • Structural basal ganglia disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

    0.79
  • cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome

    0.74
  • nephrolithiasis

    0.44
  • bladder calculus

    0.37
  • extrahepatic bile duct carcinoma

    0.34
  • ureterolithiasis

    0.29
  • urolithiasis

    0.29
  • diverticular disease

    0.25
  • hereditary disease

    0.19
  • androgenetic alopecia

    0.18

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

Protein function (UniProt)

Calcium/manganese antiporter SLC30A10

Calcium:manganese antiporter of the plasma membrane mediating the efflux of intracellular manganese coupled to an active extracellular calcium exchange (PubMed:30755481). Required for intracellular manganese homeostasis, an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. Manganese can also be cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis (PubMed:22341972, PubMed:25319704, PubMed:26728129, PubMed:27226609, PubMed:27307044). Could also have an intracellular zinc ion transporter activity, directly regulating intracellular zinc ion homeostasis and more indirectly various signaling pathway and biological processes (PubMed:22427991, PubMed:26728129)

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.