AlphaFold predicted structure
LIPC · P11150
Mean pLDDT
82.1/ 100
Confident
499 residues
Confidence breakdown
- Very high(≥ 90)61%
- Confident(70–90)16%
- Low(50–70)9%
- Very low(< 50)14%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
LIPC
Chr 15q21.3lipase C, hepatic type
- Aliases:
- HL, HTGL
- MANE:
- ENST00000299022.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Familial diabetes
Familial hypercholesterolaemia
Diabetes with additional phenotypes suggestive of a monogenic aetiology
Monogenic diabetes
UnknownMulti-organ autoimmune diabetes
Disease associations (Open Targets)
hyperlipidemia due to hepatic triglyceride lipase deficiency
0.68age-related macular degeneration
0.58Hypercholesterolemia
0.57metabolic syndrome
0.57type 2 diabetes mellitus
0.56Decreased HDL cholesterol concentration
0.55coronary artery disorder
0.55COVID-19
0.52familial hyperlipidemia
0.51metabolic disease
0.49
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Hepatic triacylglycerol lipase
Catalyzes the hydrolysis of triglycerides and phospholipids present in circulating plasma lipoproteins, including chylomicrons, intermediate density lipoproteins (IDL), low density lipoproteins (LDL) of large size and high density lipoproteins (HDL), releasing free fatty acids (FFA) and smaller lipoprotein particles (PubMed:12032167, PubMed:26193433, PubMed:7592706, PubMed:8798474). Also exhibits lysophospholipase activity (By similarity). Can hydrolyze both neutral lipid and phospholipid substrates but shows a greater binding affinity for neutral lipid substrates than phospholipid substrates (By similarity). In native LDL, preferentially hydrolyzes the phosphatidylcholine species containing polyunsaturated fatty acids at sn-2 position (PubMed:26193433)
Diseases associated with LIPC
Curated MONDO disease pages that list LIPC among their top associated genes.