SLC30A9 Chromosome 4
Solute carrier family 30 member 9
Upload your DNA to see your personal genotypes for variants in SLC30A9.
What This Gene Does
Enables zinc ion transmembrane transporter activity. Involved in intracellular zinc ion homeostasis; regulation of mitochondrion organization; and zinc ion transport. Located in several cellular components, including cytoplasmic vesicle; endoplasmic reticulum; and mitochondrial membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Solute carrier family 30
Locus Type
gene with protein product
Location
4p13
Ensembl
ENSG00000014824
Associated Conditions (2)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Inborn genetic diseases
Key Variants
RS767078182
Conflicting classifications of pathogenicity
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Inborn genetic diseases, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Health Risk
RS1412346108
Likely pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Health Risk
RS2153138452
Likely pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Health Risk
RS1131692331
Pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Health Risk
RS752245649
Pathogenic/Likely pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Inborn genetic diseases, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767078182 | Health Risk | Conflicting classifications of pathogenicity | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Inborn genetic diseases, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |
| RS1412346108 | Health Risk | Likely pathogenic | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |
| RS2153138452 | Health Risk | Likely pathogenic | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |
| RS1131692331 | Health Risk | Pathogenic | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |
| RS752245649 | Health Risk | Pathogenic/Likely pathogenic | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Inborn genetic diseases, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |