LIPE Chromosome 19
Lipase E, hormone sensitive type
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What This Gene Does
The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Lipases
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000079435
Associated Conditions (4)
LIPE-related disorder
LIPE-related familial partial lipodystrophy
Inborn genetic diseases
Lipodystrophy - childhood onset
Key Variants
RS112497256
Conflicting classifications of pathogenicity
LIPE-related disorder, LIPE-related disorder
Health Risk
RS149927060
Conflicting classifications of pathogenicity
LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy
Health Risk
RS200843831
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS587777699
Conflicting classifications of pathogenicity
LIPE-related familial partial lipodystrophy, LIPE-related disorder, Lipodystrophy - childhood onset
Health Risk
RS1361929051
Likely pathogenic
LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy
Health Risk
RS766817317
Likely pathogenic
LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy
Health Risk
RS2514467771
Pathogenic
LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112497256 | Health Risk | Conflicting classifications of pathogenicity | LIPE-related disorder, LIPE-related disorder |
| RS149927060 | Health Risk | Conflicting classifications of pathogenicity | LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy |
| RS200843831 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS587777699 | Health Risk | Conflicting classifications of pathogenicity | LIPE-related familial partial lipodystrophy, LIPE-related disorder, Lipodystrophy - childhood onset |
| RS1361929051 | Health Risk | Likely pathogenic | LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy |
| RS766817317 | Health Risk | Likely pathogenic | LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy |
| RS2514467771 | Health Risk | Pathogenic | LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy |