SLC30A10
Solute Carrier Family 30 Member 10
Gene Information Card
| Symbol | SLC30A10 |
|---|---|
| Full Name | Solute Carrier Family 30 Member 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 55532 ncbi.nlm.nih.gov/gene/55532 |
| Ensembl ID | ENSG00000162594 |
| UniProt ID | Q6XR72 |
| OMIM ID | 611146 |
| HGNC ID | 25355 |
| Aliases | ZnT10, ZNT10, HMDPC1 |
Description
SLC30A10 (Solute Carrier Family 30 Member 10) encodes a transmembrane protein that functions as a manganese (Mn) efflux transporter, primarily localized to the Golgi apparatus and plasma membrane. It is critical for cellular manganese homeostasis, protecting against manganese toxicity. Loss-of-function mutations cause hypermanganesemia with dystonia and cirrhosis (HMDPC1), an autosomal recessive disorder characterized by elevated blood manganese, neurological symptoms, and liver disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypermanganesemia with dystonia and cirrhosis (HMDPC1) | Loss-of-function mutations impair manganese efflux, leading to manganese accumulation in brain and liver. | OMIM #613280; multiple families reported |
| Parkinsonism (secondary to manganese overload) | Manganese neurotoxicity due to SLC30A10 deficiency mimics Parkinson disease. | Case reports and functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Brain (cerebellum) | 8.7 | Medium |
| Small intestine | 6.5 | Low |
| Pancreas | 4.2 | Low |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte model |
| SH-SY5Y | 9.8 | Neuroblastoma |
| Caco-2 | 7.4 | Intestinal epithelial |
| HEK293 | 5.1 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.266T>C (p.Leu89Pro) | Missense | Rare | Loss of manganese efflux activity |
| c.585_586del (p.Thr196fs) | Frameshift | Rare | Truncated protein, loss of function |
| c.754C>T (p.Arg252*) | Nonsense | Rare | Premature stop, loss of function |
| c.1066G>A (p.Gly356Arg) | Missense | Rare | Impaired trafficking and efflux |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic mutations in SLC30A10 are loss-of-function, leading to reduced manganese efflux and cellular accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Manganese homeostasis (Reactome: R-HSA-5661231)
• Metal ion transport (KEGG: hsa04978)
Protein Summary
The SLC30A10 protein (ZnT10) is a 485-amino acid multi-pass transmembrane protein belonging to the cation diffusion facilitator (CDF) family. It contains six transmembrane domains and a histidine-rich loop. ZnT10 exports manganese from the cytosol into the Golgi lumen or across the plasma membrane, thereby reducing intracellular manganese levels. It is highly expressed in liver and brain, consistent with its role in protecting these organs from manganese toxicity. Mutations that disrupt its transport activity lead to manganese accumulation and disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC30A10 Knockout HEK293 Cell Line | EDJ-KQ51457 | Human | 55532 | Details Get a Quote |
| SLC30A10 Knockout HeLa Cell Line | EDJ-KQ56598 | Human | 55532 | Details Get a Quote |
| SLC30A10 Knockout A-549 Cell Line | EDJ-KQ65098 | Human | 55532 | Details Get a Quote |
| SLC30A10 Knockout HCT 116 Cell Line | EDJ-KQ73543 | Human | 55532 | Details Get a Quote |
| SLC30A10 Knockout Huh-7 Cell Line | EDC07857 | Human | 55532 | Details Get a Quote |
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