{{.infobox .infobox-gene}}
| Symbol | SLC30A7 |
| Full Name | Solute Carrier Family 30 Member 7 (SLC30A7) |
| Chromosome | 1p21 |
| NCBI Gene ID | 203522 |
| OMIM | 608358 |
| Ensembl ID | ENSG00000149782 |
| UniProt ID | Q8TCE7 |
| Protein Name | Zinc transporter 7 (ZnT7) |
| Associated Diseases | Zinc metabolism disorders, insulin resistance, Joubert syndrome |
SLC30A7 (Zinc Transporter 7, ZnT7) is a member of the SLC30 family of zinc transporters that facilitates zinc transport into intracellular compartments, particularly the Golgi apparatus[1]. ZnT7 plays a critical role in maintaining zinc homeostasis and has been implicated in various metabolic and neurological conditions[2].
ZnT7 functions as a zinc/proton antiporter that transports zinc ions from the cytoplasm into the Golgi lumen[1:1]. Key functions include:
ZnT7 is expressed in the nervous system, including the superior cervical ganglion[4]. Dysregulation of ZnT7 may contribute to:
Recent studies have identified de novo heterozygous variants in SLC30A7 as a candidate cause for Joubert syndrome, a neurodevelopmental disorder[5]. Additionally, ZnT7 knockout mice exhibit insulin resistance in skeletal muscle, linking zinc transport to metabolic disease[2:2].
Cryo-EM structures of human ZnT7 have revealed the mechanism of Zn²⁺ uptake into the Golgi apparatus, providing insights into the transport mechanism and potential therapeutic targeting[6].
Huang & Tepaamorndech. The SLC30 family of zinc transporters. Molecular Aspects of Medicine. 2013. ↩︎ ↩︎
Huang et al. Aberrant fatty acid metabolism in skeletal muscle contributes to insulin resistance in zinc transporter 7 (znt7)-knockout mice. Journal of Biological Chemistry. 2018. ↩︎ ↩︎ ↩︎ ↩︎
Zhang et al. Zinc transporter 7 induced by high glucose attenuates epithelial-to-mesenchymal transition of peritoneal mesothelial cells. Cell Biology International. 2012. ↩︎ ↩︎
Seki et al. Expression of zinc transporter ZnT7 in mouse superior cervical ganglion. Neuroscience Letters. 2008. ↩︎ ↩︎
De Mori et al. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. American Journal of Human Genetics. 2022. ↩︎ ↩︎
Xue et al. Cryo-EM structures of human zinc transporter ZnT7 reveal the mechanism of Zn(2+) uptake into the Golgi apparatus. Cell Research. 2022. ↩︎ ↩︎