Mutation:LPL
From Metabolomics.JP
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(Created page with "{| class="wikitable" style="float:right" ! Other Links |- | [http://www.ncbi.nlm.nih.gov/gene/4023 NCBI Entrez Gene] |- | [http://genome.ucsc.edu/cgi-bin/hgTracks?position=LPL UC...") |
Revision as of 16:06, 18 January 2012
| Other Links |
|---|
| NCBI Entrez Gene |
| UCSD GoldenPath |
| Gene Reviews online |
Lipoprotein Lipase (LPL)
- Chromosomal Location
- 8p22
LPL encodes lipoprotein lipase, which has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Abnormality of LPL and the related apolipoprotein C-II system causes Type I hyperlipoproteinemia, while more complicated mechanism with environmental factors causes type V hyperlipoproteinemia. Both hyperlipoproteinemia are relatively rare, and underlie disorders of acute pancreatitis.
Statistics
- Registered number of mutations ... 0
- Single nucleotide substitution ... 0
- Deletion ... 0
- Insertion ... 0
- Deletion & Insertion ... 0
- Mutation at each exon
| ex1 | ex2 | ex3 | ex4 | ex5 | ex6 | ex7 | ex8 | ex9 |
| 0 | 7 | 5 | 12 | 2 | 1 | 5 | 4 | 7 |
