TMEM63A Chromosome 1
Transmembrane protein 63A
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What This Gene Does
Enables mechanosensitive monoatomic ion channel activity. Predicted to be involved in surfactant secretion. Located in bounding membrane of organelle; centriolar satellite; and plasma membrane. Implicated in hypomyelinating leukodystrophy 19. [provided by Alliance of Genome Resources, Apr 2025]
Associated Conditions (6)
Inborn genetic diseases
TMEM63A-related disorder
Leukodystrophy
hypomyelinating
19
transient infantile
Key Variants
RS115600896
Conflicting classifications of pathogenicity
Inborn genetic diseases, TMEM63A-related disorder, Inborn genetic diseases
Health Risk
RS201498073
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374322367
Conflicting classifications of pathogenicity
Inborn genetic diseases, Leukodystrophy, hypomyelinating
Health Risk
RS768734657
Conflicting classifications of pathogenicity
TMEM63A-related disorder, TMEM63A-related disorder
Health Risk
RS1576080546
Pathogenic
Leukodystrophy, hypomyelinating, 19
Health Risk
RS1576101665
Pathogenic
Leukodystrophy, hypomyelinating, 19
Health Risk
RS2102825771
Pathogenic
Leukodystrophy, hypomyelinating, 19
Health Risk
RS1576074651
Pathogenic/Likely pathogenic
Leukodystrophy, hypomyelinating, 19
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115600896 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TMEM63A-related disorder, Inborn genetic diseases |
| RS201498073 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374322367 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Leukodystrophy, hypomyelinating |
| RS768734657 | Health Risk | Conflicting classifications of pathogenicity | TMEM63A-related disorder, TMEM63A-related disorder |
| RS1576080546 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 19 |
| RS1576101665 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 19 |
| RS2102825771 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 19 |
| RS1576074651 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, hypomyelinating, 19 |