Symbol
| COL4A3BP
| contributors: mct/npt/pgu - updated : 08-03-2017
|
HGNC name
| collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
|
HGNC id
| 2205
|
corresponding disease(s)
|
MRD34
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
|  
| loss of function
|
can attenuate a key metabolic protective mechanism against ceramide-induced apoptosis in keratinocytes | constitutional
|  
|  
|  
| loss of function
|
compromises organelle function and leads to senescence in primary cells | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| Cert deficient embryos die from cardiac failure due to defective organogenesis, but not due to ceramide induced apoptotic or necrotic cell death |