Lipoprotein Lipase

Alternative Names

  • LPL
  • High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 11
  • HDLCQ11
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OMIM Number

609708

NCBI Gene ID

4023

Uniprot ID

P06858

Length

65,543 bases

No. of Exons

10

No. of isoforms

1

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 NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000237.2:c.776-172G>AUnited Arab EmiratesNC_000008.11:g.19955669G>ABenignAssociationCoronary Artery Disease, Autosomal Dominant, 1NG_008855.2:g.58953G>A; NM_000237.2:c.776-172G>A; NP_000228.1:p.?2641282596
NM_000237.3:c.602A>TLebanonNC_000008.11:g.19954180A>TUncertain SignificanceHyperlipoproteinemia, Type ING_008855.2:g.57464A>T; NM_000237.3:c.602A>T; NP_000228.1:p.Asp201Val2069961955
NM_000237.3:c.858T>AMoroccoNC_000008.11:g.19955923T>ALikely PathogenicHyperlipoproteinemia, Type ING_008855.2:g.59207T>A; NM_000237.3:c.858T>A; NP_000228.1:p.Ser286Arg
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