Symbol
| APOC3
| contributors: mct - updated : 21-03-3012
|
HGNC name
| apolipoprotein C-III
|
HGNC id
| 610
|
corresponding disease(s)
|
APOC3
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
|  
|
null mutation confers a favorable lipid profile and apparent cardioprotection and does not result in any obvious detrimental effect (Pollin 2008) | constitutional
|  
|  
| --over
|  
|
increased in type 1 diabetic patients | |
Susceptibility
|
to higher triglyceride dosage and to low HDL-cholesterol to type 1 diabetes to acute myocardial infarction in diabetic patients |
Variant & Polymorphism
SNP
, other
| C1100T increase HDL and protecting against coronary artery disease |
|
haplotype increasing thre risk of type 1 diabetes |
|
association of polymorphism with acute myocardial infarction in diabetic patients |
|
|
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cardiovascular | atheroma | cardiac | |
therapies aimed specifically at down-regulating APOC3 expression will be clinically efficacious and safe in reducing the morbidity and mortality associated with coronary artery disease | diabete | type 1 | | |
target for the treatment of type 1 diabetes |
| | | |