Symbol
| PCSK2
| contributors: mct - updated : 26-08-2015
|
HGNC name
| proprotein convertase subtilisin/kexin type 2
|
HGNC id
| 8744
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
decreased hypothalamic PCSK1, PCSK2, FURIN in huntington disease patients | |
Susceptibility
|
to type 2 diabetes |
Variant & Polymorphism
| variant of the PCSK2 gene associated with reduced glucose-stimulated insulin secretion, but also with lower glucagon levels, which could potentially counteract the effects of decreased insulin secretion on the risk of type 2 diabetes |
|
|
Candidate gene
Marker
Therapy target
| | | |
| Pcsk2-null mice exhibit delayed intestinal motility, reduced refeeding response and altered plasma levels of several regulatory peptides |