Aliases for SLC39A5 Gene
External Ids for SLC39A5 Gene
Previous GeneCards Identifiers for SLC39A5 Gene
The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
GeneCards Summary for SLC39A5 Gene
SLC39A5 (Solute Carrier Family 39 (Zinc Transporter), Member 5) is a Protein Coding gene. Diseases associated with SLC39A5 include myopia 24, autosomal dominant and acrodermatitis enteropathica. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include metal ion transmembrane transporter activity. An important paralog of this gene is SLC39A12.
UniProtKB/Swiss-Prot for SLC39A5 Gene
May play a role in polarized cells by carrying out serosal-to-mucosal zinc transport. Plays a role in eye development. Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed:24891338). Seems to play a central role in controlling organismal zinc status (By similarity).