TMEM163 Chromosome 2
Transmembrane protein 163
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What This Gene Does
Predicted to enable zinc ion binding activity. Involved in myelination and zinc export across plasma membrane. Predicted to be located in early endosome membrane. Predicted to be active in plasma membrane and synaptic vesicle membrane. Implicated in hypomyelinating leukodystrophy 25. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Solute carrier family 30
Locus Type
gene with protein product
Location
2q21.3
Ensembl
ENSG00000152128
Associated Conditions (3)
Leukodystrophy
hypomyelinating
25
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2467325671 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 25 |
| RS2468508848 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 25 |
| RS2468508886 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 25 |