SLC30A10
Chr 1ARsolute carrier family 30 member 10
Also known as: HMDPC, HMNDYT1, ZNT10, ZNT8, ZRC1, ZnT-10
The protein functions as a calcium:manganese antiporter that mediates manganese efflux from cells and is required for intracellular manganese homeostasis. Autosomal recessive mutations cause hypermanganesemia with dystonia 1, which presents with dystonia and can progress to adult-onset parkinsonism due to manganese accumulation and toxicity. The gene is highly expressed in liver and is particularly important for neuronal metabolism since manganese is essential for neurotransmitter metabolism but becomes cytotoxic when accumulated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function, gain-of-function and dominant-negative). The Badonyi & Marsh model scores gain-of-function highest among its predictions, but genomic evidence (constraint, ClinVar variant spectrum, and literature) most strongly supports loss-of-function (haploinsufficiency). Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC30A10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools