Description
Product Characteristics:
ZNT8 is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010].
Subcellular location: Cytoplasm, Cell membrane
Synonyms: SLC30A8, solute carrier family 30 (zinc transporter), member 8, Solute carrier family 30 member 8, Zinc transporter 8, zinc transporter ZnT-8, ZnT-8, ZNT 8, ZNT8_HUMAN.
Target Information: This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]