PLIN1 Chromosome 15
Perilipin 1
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What This Gene Does
The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Perilipins
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000166819
Associated Conditions (3)
Monogenic diabetes
PLIN1-related familial partial lipodystrophy
PLIN1-related disorder
Key Variants
RS146385147
Conflicting classifications of pathogenicity
Monogenic diabetes, Monogenic diabetes
Health Risk
RS367976552
Conflicting classifications of pathogenicity
Health Risk
RS74407840
Conflicting classifications of pathogenicity
PLIN1-related familial partial lipodystrophy, Monogenic diabetes, PLIN1-related disorder
Health Risk
RS150822845
Likely pathogenic
PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
Health Risk
RS1567075176
Pathogenic
PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
Health Risk
RS1567075667
Pathogenic
PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
Health Risk
RS1964333023
Pathogenic
PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
Health Risk
RS2141523598
Pathogenic
PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
Health Risk
RS2141525540
Pathogenic
PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146385147 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Monogenic diabetes |
| RS367976552 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74407840 | Health Risk | Conflicting classifications of pathogenicity | PLIN1-related familial partial lipodystrophy, Monogenic diabetes, PLIN1-related disorder |
| RS150822845 | Health Risk | Likely pathogenic | PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy |
| RS1567075176 | Health Risk | Pathogenic | PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy |
| RS1567075667 | Health Risk | Pathogenic | PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy |
| RS1964333023 | Health Risk | Pathogenic | PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy |
| RS2141523598 | Health Risk | Pathogenic | PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy |
| RS2141525540 | Health Risk | Pathogenic | PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy |