SLC30A6

Chr 2

solute carrier family 30 member 6

Also known as: MST103, MSTP103, ZNT6

NCBI Gene: 55676 ENSG00000152683 UniProt: Q6NXT4

This protein forms a functional zinc transporter with SLC30A5 that moves zinc into organelles of the secretory pathway, regulating zinc homeostasis and the proper folding of enzymes like alkaline phosphatases. Biallelic mutations cause hyperphosphatasia with impaired intellectual development and seizures (HPMRS), an autosomal recessive disorder presenting in infancy with developmental delay, seizures, and elevated alkaline phosphatase levels. The gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [provided by RefSeq, Aug 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.87

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)