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Solute carrier family 30 (zinc transporter), member 8
Symbols SLC30A8 ; ZNT8; ZnT-8
External IDs OMIM611145 MGI2442682 HomoloGene13795 GeneCards: SLC30A8 Gene
RNA expression pattern
PBB GE SLC30A8 gnf1h06210 at tn.png
More reference expression data
Species Human Mouse
Entrez 169026 239436
Ensembl ENSG00000164756 ENSMUSG00000022315
UniProt Q8IWU4 Q8BGG0
RefSeq (mRNA) NM_001172811 NM_172816
RefSeq (protein) NP_001166282 NP_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[edit]

Association with type 2 diabetes (T2D)[edit]

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[edit]


Further reading[edit]

External links[edit]