TMEM63C Chromosome 14
Transmembrane protein 63C
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What This Gene Does
Enables calcium-activated cation channel activity. Involved in monoatomic cation transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. Implicated in hereditary spastic paraplegia 87. Biomarker of focal segmental glomerulosclerosis. [provided by Alliance of Genome Resources, Apr 2025]
Associated Conditions (2)
Spastic paraplegia 87
autosomal recessive
Key Variants
RS995111248
Conflicting classifications of pathogenicity
Health Risk
RS2140122740
Pathogenic
Spastic paraplegia 87, autosomal recessive, Spastic paraplegia 87
Health Risk
RS2140127185
Pathogenic
Spastic paraplegia 87, autosomal recessive, Spastic paraplegia 87
Health Risk
RS2140129677
Pathogenic
Spastic paraplegia 87, autosomal recessive, Spastic paraplegia 87
Health Risk
RS2140130724
Pathogenic
Spastic paraplegia 87, autosomal recessive, Spastic paraplegia 87
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS995111248 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2140122740 | Health Risk | Pathogenic | Spastic paraplegia 87, autosomal recessive, Spastic paraplegia 87 |
| RS2140127185 | Health Risk | Pathogenic | Spastic paraplegia 87, autosomal recessive, Spastic paraplegia 87 |
| RS2140129677 | Health Risk | Pathogenic | Spastic paraplegia 87, autosomal recessive, Spastic paraplegia 87 |
| RS2140130724 | Health Risk | Pathogenic | Spastic paraplegia 87, autosomal recessive, Spastic paraplegia 87 |