sábado, 12 de diciembre de 2015

LIPC - lipase, hepatic - Genetics Home Reference

LIPC - lipase, hepatic - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


Reviewed December 2015

What is the official name of the LIPC gene?

The official name of this gene is “lipase, hepatic.”
LIPC is the gene's official symbol. The LIPC gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the LIPC gene?

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.

How are changes in the LIPC gene related to health conditions?

hepatic lipase deficiency - caused by mutations in the LIPC gene
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.
Genetics Home Reference provides information about age-related macular degeneration, which is also associated with changes in the LIPC gene.

Where is the LIPC gene located?

Cytogenetic Location: 15q21-q23
Molecular Location on chromosome 15: base pairs 58,410,754 to 58,568,874
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)
The LIPC gene is located on the long (q) arm of chromosome 15 between positions 21 and 23.
The LIPC gene is located on the long (q) arm of chromosome 15 between positions 21 and 23.
More precisely, the LIPC gene is located from base pair 58,410,754 to base pair 58,568,874 on chromosome 15.

Where can I find additional information about LIPC?

You and your healthcare professional may find the following resources about LIPC helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the LIPC gene or gene products?

  • HDLCQ12
  • hepatic lipase
  • HL
  • HTGL
  • lipase member C
  • LIPH

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding LIPC?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (5 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook

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