{{.infobox .infobox-gene}}
| Symbol | SLC30A9 |
| Full Name | Solute Carrier Family 30 Member 9 (SLC30A9) |
| Chromosome | 4q21 |
| NCBI Gene ID | 57151 |
| OMIM | 608332 |
| Ensembl ID | ENSG00000107140 |
| UniProt ID | Q6ZMP9 |
| Protein Name | Zinc transporter 9 (ZnT9) |
| Associated Diseases | Mitochondrial dysfunction, cerebro-renal syndrome, cancer |
SLC30A9 (Zinc Transporter 9, ZnT9) is a member of the SLC30 family that has been recently characterized as a mitochondrial zinc transporter[1]. Unlike other ZnT family members that primarily localize to the Golgi, ZnT9 is predominantly mitochondrial, where it plays essential roles in mitochondrial zinc homeostasis and function[2].
ZnT9 functions as a mitochondrial zinc transporter with several critical functions:
ZnT9's mitochondrial localization makes it particularly relevant to neurodegenerative diseases, which are often characterized by mitochondrial dysfunction:
SLC30A9 mutations cause a novel cerebro-renal syndrome characterized by:
Additionally, PRDM1-driven SLC30A9 overexpression has been linked to malignant phenotypes in cervical cancer cells[4:1].
Studies have shown that ZnT9 expression is decreased in vaginal tissues of menopausal women, suggesting a role in age-related zinc homeostasis changes[6].
Evolutionary rate covariation analysis has identified SLC30A9 (ZnT9) as a mitochondrial zinc transporter, conserved across mammals[2:1]. Studies in C. elegans have confirmed the evolutionary conservation of SLC30A9 function in oxidative stress response[3:2].
Zhang et al. SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development. Cell Discovery. 2024. ↩︎ ↩︎ ↩︎ ↩︎
Csatary et al. Evolutionary rate covariation identifies SLC30A9 (ZnT9) as a mitochondrial zinc transporter. Genome Biology and Evolution. 2021. ↩︎ ↩︎ ↩︎
Borgmann et al. A mutation in SLC30A9, a zinc transporter, causes increased sensitivity to oxidative stress in Caenorhabditis elegans. Journal of Molecular Biology. 2022. ↩︎ ↩︎ ↩︎ ↩︎
Wu et al. PRDM1-driven SLC30A9 overexpression contributes to malignant phenotype of cervical cancer cells. Oncogene. 2024. ↩︎ ↩︎ ↩︎
Major et al. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Human Molecular Genetics. 2017. ↩︎ ↩︎ ↩︎
Zhang et al. Zinc Transporter 9 (SLC30A9) Expression Is Decreased in the Vaginal Tissues of Menopausal Women. Menopause. 2022. ↩︎ ↩︎