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Open Access Articles- Top Results for SLC30A8

SLC30A8


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Identifiers
SymbolsSLC30A8 ; ZNT8; ZnT-8
External IDsOMIM611145 MGI2442682 HomoloGene13795 IUPHAR: 1128 GeneCards: SLC30A8 Gene
RNA expression pattern
File:PBB GE SLC30A8 gnf1h06210 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez169026239436
EnsemblENSG00000164756ENSMUSG00000022315
UniProtQ8IWU4Q8BGG0
RefSeq (mRNA)NM_001172811NM_172816
RefSeq (protein)NP_001166282NP_766404
Location (UCSC)Chr 8:
117.96 – 118.19 Mb
Chr 15:
52.3 – 52.34 Mb
PubMed search[1][2]

Solute carrier family 30 (zinc transporter), member 8, also known as SLC30A8, is a human gene[1] that codes for a zinc transporter related to insulin secretion in humans. Certain alleles of this gene may increase the risk for developing type 2 diabetes, but a loss-of-function mutation appears to greatly reduce the risk of diabetes.[2]

Clinical significance

Association with type 2 diabetes (T2D)

12 rare variants in SLC30A8 have been identified through the sequencing or genotyping of approximately 150,000 individuals from 5 different ancestry groups. SLC30A8 contains a common variant (p.Trp325Arg), which is associated with T2D risk and levels of glucose and proinsulin.[3][4][5] Individuals carrying protein-truncating variants collectively had 65% reduced risk of T2D. Additionally, non-diabetic individuals from Iceland harboring a frameshift variant p.Lys34Serfs*50 demonstrated reduced glucose levels.[2] Earlier functional studies of SLC30A8 suggested that reduced zinc transport increased T2D risk.[6][7] Conversely, loss-of-function mutations in humans indicate that SLC30A8 haploinsufficiency protects against T2D. Therefore, ZnT8 inhibition can serve as a therapeutic strategy in preventing T2D.[2]


See also

References

  1. ^ "Entrez Gene: SLC30A8 solute carrier family 30 (zinc transporter), member 8". 
  2. ^ a b c Flannick, Jason et al. (2014). "Loss-of-function mutations in SLC30A8 protect against type 2 diabetes". Nature Genetics. doi:10.1038/ng.2915. 
  3. ^ Dupis, J. et al. (Feb 2010). "New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.". Nature Genetics 42 (2): 105–16. PMID 20081858. doi:10.1038/ng.520. 
  4. ^ Strawbridge, R.J. et al. (October 2011). "Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.". Diabetes 60 (10): 2624–34. PMC 3178302. PMID 21873549. doi:10.2337/db11-0415. 
  5. ^ Morris, A.P. et al. (Sep 2012). "Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.". Nature Genetics 44 (9): 981–90. PMID 22885922. doi:10.1038/ng.2383. 
  6. ^ Nicolson, T.J. et al. (Sep 2009). "Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes–associated variants.". Diabetes 58 (9): 2070–83. PMID 19542200. doi:10.2337/db09-0551. 
  7. ^ Rutter, G.A. et al. "Think zinc: new roles for zinc in the control of insulin secretion.". Islets 2 (1): 49–50. PMID 21099294. doi:10.4161/isl.2.1.10259. 

Further reading

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External links


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