Lipoprotein Lipase

Alternative Names

LPL
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 11
HDLCQ11

Length

65,543 bases

No. of Exons

No. of isoforms

Protein Name

Lipoprotein lipase

Molecular Mass

53162Da

Amino Acid Count

475

Genomic Location

chr8:19,901,717-19,967,259

Gene Map Locus

8p21.3

Description

Lipoprotein Lipase encoded by LPL gene is an enzyme involved in lipid metabolism. Deficiency of liproprotein lipase affects the normal breakdown of triglycerides in the body and causes hyperlipoproteinemia type I.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000237.2:c.776-172G>A	United Arab Emirates	NC_000008.11:g.19955669G>A	Benign	Association	Coronary Artery Disease, Autosomal Dominant, 1	NG_008855.2:g.58953G>A; NM_000237.2:c.776-172G>A; NP_000228.1:p.?	264	1282596
NM_000237.3:c.602A>T	Lebanon	NC_000008.11:g.19954180A>T		Uncertain Significance	Hyperlipoproteinemia, Type I	NG_008855.2:g.57464A>T; NM_000237.3:c.602A>T; NP_000228.1:p.Asp201Val	2069961955
NM_000237.3:c.858T>A	Morocco	NC_000008.11:g.19955923T>A		Likely Pathogenic	Hyperlipoproteinemia, Type I	NG_008855.2:g.59207T>A; NM_000237.3:c.858T>A; NP_000228.1:p.Ser286Arg

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPL https://medlineplus.gov/genetics/gene/lpl/

Contributors

Asha Deepthi: 07.09.2021
Nada Assaf: 17.05.2017
Sayeeda Hana: 08.08.2016
Pratibha Nair: 28.10.2014
Ghazi O. Tadmouri: 27.12.2006
Pratibha Nair: 09.07.2006

Edit History

Pratibha Nair: 09.02.2023
Asha Deepthi: 07.09.2021
Asha Deepthi: 29.11.2018
Asha Deepthi: 28.11.2018
Pratibha Nair: 25.07.2017
Pratibha Nair: 30.10.2014
Tasneem Obeid: 17.04.2008
Pratibha Nair: 28.12.2006

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