| Symbol
| BGN
| contributors: npt/mct/pgu - updated : 04-07-2016
|
| HGNC name
| biglycan
|
| HGNC id
| 1044
|
| corresponding disease(s)
|
SEMD6
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
|
| loss of function
|
increases aortic aneurysm development and is not protective against the development of atherosclerosis, leading to loosely packed aortic collagen fibers  | |
| Susceptibility
|
to carpal tunnel syndrome (CTS) |
| Variant & Polymorphism
other
| variants within the BGN gene, independently and by interacting with COL5A1 variants, are associated with CTS |
| 
|
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| reproduction | pregnancy | | |
| novel target for research on preventive strategies for preterm premature rupture of fetal membranes |
| | | |
|
| targeted disruption of Bgn in mice,lead to an osteoporotic like phenotype | |
biglycan-deficient mice exhibited significantly increased vascular perlecan content compared to biglycan wildtype mice |