SLC30A10

Chr 1AR

solute carrier family 30 member 10

Also known as: HMDPC, HMNDYT1, ZNT10, ZNT8, ZRC1, ZnT-10

NCBI Gene: 55532 ENSG00000196660 UniProt: Q6XR72 OMIM: 611146

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypermanganesemia with dystonia 1MIM #613280

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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GeneReview available — SLC30A10