TMEM63B Chromosome 6
Transmembrane protein 63B
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What This Gene Does
Enables mechanosensitive monoatomic cation channel activity. Predicted to be involved in sensory perception of sound and surfactant secretion. Located in actin cytoskeleton; cytoplasmic vesicle membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]
Associated Conditions (4)
Inborn genetic diseases
TMEM63B-associated disorder
Rare epilepsy
Developmental and epileptic encephalopathy 118
Key Variants
RS770270376
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2533377779
Likely pathogenic
Health Risk
RS2533350659
Pathogenic
Health Risk
RS1420636219
Pathogenic/Likely pathogenic
TMEM63B-associated disorder, Rare epilepsy, Developmental and epileptic encephalopathy 118
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS770270376 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2533377779 | Health Risk | Likely pathogenic | — |
| RS2533350659 | Health Risk | Pathogenic | — |
| RS1420636219 | Health Risk | Pathogenic/Likely pathogenic | TMEM63B-associated disorder, Rare epilepsy, Developmental and epileptic encephalopathy 118 |