LIPC

lipase C, hepatic type

The LIPC gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps with the conversion of fat-transporting molecules called very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs) to low-density lipoproteins (LDLs). The enzyme also assists in transporting molecules called high-density lipoproteins (HDLs) that carry cholesterol and triglycerides from the blood to the liver, where the HDLs deposit these fats so they can be redistributed to other tissues or removed from the body. Hepatic lipase helps to keep these fat-transporting molecules in balance by regulating the formation of LDLs and the transport of HDLs. Normally, high levels of HDL (known as "good cholesterol") and low levels of LDL (known as "bad cholesterol") are protective against heart disease.

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At least 10 mutations in the LIPC gene have been found to cause hepatic lipase deficiency. This condition leads to abnormal levels of various fats (lipids) in the bloodstream, although it is unclear whether these changes impact the risk of developing heart disease. The LIPC gene mutations that cause this condition change single protein building blocks (amino acids) in the hepatic lipase enzyme. These mutations prevent the enzyme's release from the liver or decrease its activity in the bloodstream. As a result, VLDLs and IDLs are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglycerides remain in the bloodstream. It is unclear what effect this change in fat levels has on people with hepatic lipase deficiency, as some affected people develop an accumulation of fatty deposits on the artery walls (atherosclerosis) and heart disease in mid-adulthood, while others do not.

Cytogenetic Location: 15q21.3, which is the long (q) arm of chromosome 15 at position 21.3

Molecular Location: base pairs 58,410,754 to 58,568,952 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.3, which is the long (q) arm of chromosome 15 at position 21.3
  • HDLCQ12
  • hepatic lipase
  • HL
  • HTGL
  • lipase C, hepatic
  • lipase member C
  • lipase, hepatic
  • LIPH