PISD Chromosome 22
Phosphatidylserine decarboxylase
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What This Gene Does
The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
22q12.2
Ensembl
ENSG00000241878
Associated Conditions (3)
PISD-related mitochondrial disease
Liberfarb syndrome
Inborn genetic diseases
Key Variants
RS147371584
Conflicting classifications of pathogenicity
PISD-related mitochondrial disease, Liberfarb syndrome, PISD-related mitochondrial disease
Health Risk
RS199697700
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200138628
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1204501099
Likely pathogenic
Health Risk
RS1413843105
Likely pathogenic
Health Risk
RS1321112383
Pathogenic
Health Risk
RS1410592269
Pathogenic
Liberfarb syndrome, Liberfarb syndrome
Health Risk
RS778194666
Pathogenic
Health Risk
RS1603393478
Pathogenic/Likely pathogenic
PISD-related mitochondrial disease, Liberfarb syndrome, PISD-related mitochondrial disease
Health Risk
RS2072505076
Pathogenic/Likely pathogenic
Liberfarb syndrome, Liberfarb syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147371584 | Health Risk | Conflicting classifications of pathogenicity | PISD-related mitochondrial disease, Liberfarb syndrome, PISD-related mitochondrial disease |
| RS199697700 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200138628 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1204501099 | Health Risk | Likely pathogenic | — |
| RS1413843105 | Health Risk | Likely pathogenic | — |
| RS1321112383 | Health Risk | Pathogenic | — |
| RS1410592269 | Health Risk | Pathogenic | Liberfarb syndrome, Liberfarb syndrome |
| RS778194666 | Health Risk | Pathogenic | — |
| RS1603393478 | Health Risk | Pathogenic/Likely pathogenic | PISD-related mitochondrial disease, Liberfarb syndrome, PISD-related mitochondrial disease |
| RS2072505076 | Health Risk | Pathogenic/Likely pathogenic | Liberfarb syndrome, Liberfarb syndrome |