zinc transporter 8; solute carrier family 30 member 8; ZnT-8 (SLC30A8, ZNT8)
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Function
- facilitates accumulation of zinc from cytolplasm into intracellular vesicles
- may be a major component providing zinc to insulin maturation &/or storage processes in pancreatic beta-cells
Structure
- homodimer
- belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily
- contains a histidine-rich region which is a ligand for zinc
Compartment
- cell membrane
- cytoplasmic vesicle, secretory vesicle membrane
- associated with insulin secretory granules & glucagon secretory granules (putative)
Alternative splicing
named isoforms=2
Expression
- expressed in beta-cells of pancreatic islets
- expressed at relatively high levels in subcutaneous fat from lean persons
- much lower levels in visceral fat, whether from lean or obese individuals, & in subcutaneous fat tissue from obese persons
- expressed in peripheral blood mononuclear cells, including T-cells & B-cells, with great variation among individuals
Pathology
- antibodies to ZNT8 are found in 65% of patients with diabetes melltus type-1[3]
Polymorphism
- variant Trp-325 is a risk factor that confers susceptibility to diabetes mellitus type-2
- SLC30A8 loss of function diminishes risk of type 2 diabetes[2]
Laboratory
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q8IWU4.html
- ↑ 2.0 2.1 Flannick J et al Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics. March 2, 2014 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/24584071 <Internet> http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2915.html
- ↑ 3.0 3.1 Kelley KJ and Sofair A New Type 1 Diabetes Test Approved. Physician's First Watch, Aug 22, 2014 David G. Fairchild, MD, MPH, Editor-in-Chief Massachusetts Medical Society http://www.jwatch.org
FDA News Release. August 20, 2104 FDA allows marketing of first ZnT8Ab autoantibody test to help diagnose type 1 diabetes. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm410830.htm