PLAAT3 Chromosome 11
Phospholipase A and acyltransferase 3
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What This Gene Does
Enables N-acyltransferase activity; lipid binding activity; and phospholipase activity. Involved in N-acylphosphatidylethanolamine metabolic process. Predicted to be located in several cellular components, including lysosome; nuclear envelope; and peroxisome. Predicted to be active in cytoplasm. Biomarker of seminoma. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Phospholipases|Phospholipase A and acyltransferase family"
Locus Type
gene with protein product
Location
11q12.3-q13.1
Ensembl
ENSG00000176485
Associated Conditions (3)
Lipodystrophy
familial partial
type 9
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2495548886 | Health Risk | Pathogenic | Lipodystrophy, familial partial, type 9 |
| RS373632324 | Health Risk | Pathogenic | Lipodystrophy, familial partial, type 9 |