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Sequence in raw or FASTA format:
SLC30A10 solute carrier family 30, member 10 [
Homo sapiens (human)]
Gene Symbol SLC30A10
Entrez Gene ID
Full Name solute carrier family 30, member 10
Synonyms HMDPC, ZNT10, ZNT8, ZRC1, ZnT-10
General protein information
Gene Type protein-coding
Homo sapiens (human)
Chromosome:1 Map Location:1q41
Summary 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].
ID Name Evidence
GO:0008324 cation transmembrane transporter activity IEA
Related articles in PubMed Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Tuschl K, et al. , 1993. PMID 22934317. Efflux function, tissue-specific expression and intracellular trafficking of the Zn transporter ZnT10 indicate roles in adult Zn homeostasis. Bosomworth HJ, et al. Metallomics, 2012 Aug. PMID 22706290. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Tuschl K, et al. Am J Hum Genet, 2012 Mar 9. PMID 22341972. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Quadri M, et al. Am J Hum Genet, 2012 Mar 9. PMID 22341971. Polymorphisms in mitochondrial genes and prostate cancer risk. Wang L, et al. Cancer Epidemiol Biomarkers Prev, 2008 Dec. PMID 19064571. See all (8) citations in PubMed See citations in PubMed for homologs of this gene provided by HomoloGene
GeneRIFs: Gene References Into Functions
What's a GeneRIF?
The study demonstrates down-regulation by Zn of ZnT10 mRNA levels in cultured intestinal and neuroblastoma cell lines and demonstrate reduced transcription from the ZnT10 promoter at an elevated extracellular Zn concentration.
Title: Efflux function, tissue-specific expression and intracellular trafficking of the Zn transporter ZnT10 indicate roles in adult Zn homeostasis.
This work has confirmed that SLC30A10 functions as a Mn transporter in humans that, when defective, causes Mn accumulation in liver and brain.
Title: Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
SLC30A10 mutations cause a treatable recessive disease with pleomorphic phenotype, and provide compelling evidence that SLC30A10 plays a pivotal role in manganese transport.
Title: Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
identified the full-length sequences of SLC30A10, extending the SLC30 family to ten members; used an expressed sequence tag (EST) data mining strategy to determine the pattern of ZnT genes expression in tissues
Title: In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression.
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