SLC30A8

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Solute carrier family 30 (zinc transporter), member 8
Identifiers
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
Orthologs
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]

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Further reading[edit]

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