Differential cytolocation and functional assays of the two major human SLC30A8 (ZnT8) isoforms

S Carvalho, J Molina-López, D Parsons… - Journal of Trace …, 2017 - Elsevier
The non-synonymous single nucleotide polymorphism (SNP) rs13266634 in human zinc
transporter 8, ZnT8 (SLC30A8), leads to a R325 variant, which is associated with an
increased risk of developing Type 2 Diabetes (T2D). Although the molecular details remain
unknown, the mutation is thought to alter the kinetics of zinc transport into insulin granules in
pancreatic β-cells. Nevertheless, analysis of ZnT8 sequences from several animals shows
that the amino acid at position 325 is poorly conserved. Apart from this particular SNP …