SLC39A8 (also known as ZIP8) is a member of the solute carrier family 39 that functions as a zinc and iron transporter. Genetic variants in SLC39A8 have been associated with Parkinson's disease, Alzheimer's disease, and other neurodegenerative conditions.
| Solute Carrier Family 39 Member 8 | |
|---|---|
| Gene Symbol | SLC39A8 |
| Full Name | Solute Carrier Family 39 Member 8 |
| Chromosome | 4q24 |
| NCBI Gene ID | [64116](https://www.ncbi.nlm.nih.gov/gene/64116) |
| OMIM | 608732 |
| Ensembl ID | ENSG00000138821 |
| UniProt ID | [Q9C0K1](https://www.uniprot.org/uniprot/Q9C0K1) |
| Associated Diseases | [Parkinson's Disease](/diseases/parkinsons-disease), [Alzheimer's Disease](/diseases/alzheimers-disease), Leigh Syndrome, Congenital Disorder of Glycosylation |
SLC39A8 is a human gene whose product sLC39A8 encodes the zinc and iron transporter protein ZIP8 (also called Zrt- and Irt-like protein 8). This protein plays a critical role in metal homeostasis by facilitating the uptake of zinc and iron across cellular membranes, including the blood-brain barrier. Variants in SLC39A8 have been implicated in Parkinson's Disease, Alzheimer's Disease, Other Conditions. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
SLC39A8 encodes the zinc and iron transporter protein ZIP8 (also called Zrt- and Irt-like protein 8). This protein plays a critical role in metal homeostasis by facilitating the uptake of zinc and iron across cellular membranes, including the blood-brain barrier.
Key functions include:
SLC39A8 shows broad expression across multiple tissues with highest levels in:
In the brain, ZIP8 is expressed in dopaminergic neurons of the substantia nigra, making it particularly relevant to Parkinson's disease pathogenesis.
Genome-wide association studies (GWAS) have identified SLC39A8 variants as a risk factor for Parkinson's disease[4]. These variants may lead to:
SLC39A8 variants have been linked to Alzheimer's disease risk, potentially affecting:
| Condition | Variant Type | Mechanism |
|---|---|---|
| Leigh Syndrome | Severe loss-of-function | Mitochondrial dysfunction |
| Congenital Disorder of Glycosylation Type II | Hypomorphic variants | Glycosylation defects |
Targeting SLC39A8 represents a potential therapeutic strategy for neurodegenerative diseases:
Liu et al. ZIP8-mediated zinc transport in neurodegeneration (2023). 2023. ↩︎
Wang et al. Iron homeostasis and Parkinson's disease (2022). 2022. ↩︎
Gomes et al. Blood-brain barrier metal transporters (2021). 2021. ↩︎
Nalls et al. [PD GWAS meta-analysis (2019)](https://doi.org/10.1016/S1474-4422(19). 2019. ↩︎