Aliases for SLC39A8 Gene
External Ids for SLC39A8 Gene
Previous GeneCards Identifiers for SLC39A8 Gene
This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]
GeneCards Summary for SLC39A8 Gene
SLC39A8 (Solute Carrier Family 39 Member 8) is a Protein Coding gene. Diseases associated with SLC39A8 include Congenital Disorder Of Glycosylation 2N. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metal ion SLC transporters. GO annotations related to this gene include metal ion transmembrane transporter activity. An important paralog of this gene is SLC39A14.
UniProtKB/Swiss-Prot for SLC39A8 Gene
Acts as a manganese and zinc influx transporter (PubMed:12504855, PubMed:26637978). Plays a role in manganese reabsorption in the proximal tubule of the kidney and in manganese uptake into the brain (PubMed:26637978).