CRLS1 Chromosome 20
Cardiolipin synthase 1
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What This Gene Does
This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]
Associated Conditions (1)
Combined oxidative phosphorylation deficiency 57
Key Variants
RS1568615047
Pathogenic
Combined oxidative phosphorylation deficiency 57, Combined oxidative phosphorylation deficiency 57
Health Risk
RS759395960
Pathogenic
Combined oxidative phosphorylation deficiency 57, Combined oxidative phosphorylation deficiency 57
Health Risk
RS764608497
Pathogenic
Combined oxidative phosphorylation deficiency 57, Combined oxidative phosphorylation deficiency 57
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1568615047 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 57, Combined oxidative phosphorylation deficiency 57 |
| RS759395960 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 57, Combined oxidative phosphorylation deficiency 57 |
| RS764608497 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 57, Combined oxidative phosphorylation deficiency 57 |