Mutation:LPL
From Metabolomics.JP
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| {{#CountLine:^_position=exon1$|Mutation|LDLR/_%}} | | {{#CountLine:^_position=exon1$|Mutation|LDLR/_%}} | ||
| − | | {{#CountLine:position=exon2|Mutation| | + | | {{#CountLine:position=exon2|Mutation|LPL/_%}} |
| − | | {{#CountLine:position=exon3|Mutation| | + | | {{#CountLine:position=exon3|Mutation|LPL/_%}} |
| − | | {{#CountLine:position=exon4|Mutation| | + | | {{#CountLine:position=exon4|Mutation|LPL/_%}} |
| − | | {{#CountLine:position=exon5|Mutation| | + | | {{#CountLine:position=exon5|Mutation|LPL/_%}} |
| − | | {{#CountLine:position=exon6|Mutation| | + | | {{#CountLine:position=exon6|Mutation|LPL/_%}} |
| − | | {{#CountLine:position=exon7|Mutation| | + | | {{#CountLine:position=exon7|Mutation|LPL/_%}} |
| − | | {{#CountLine:position=exon8|Mutation| | + | | {{#CountLine:position=exon8|Mutation|LPL/_%}} |
| − | | {{#CountLine:position=exon9|Mutation| | + | | {{#CountLine:position=exon9|Mutation|LPL/_%}} |
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Latest revision as of 16:07, 18 January 2012
| Other Links |
|---|
| NCBI Entrez Gene |
| UCSD GoldenPath |
| Gene Reviews online |
[edit] 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.
[edit] 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 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
