Symbol
| DST
| contributors: mct - updated : 24-04-2012
|
HGNC name
| dystonin
|
HGNC id
| 1090
|
corresponding disease(s)
|
EBS6
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
 
|  
|  
|  
|  
| -
| |
Variant & Polymorphism
|
| |
Candidate gene
| coding a glycoprotein that serves as an autoantigen in the blistering disease bullous pemphigoid |
Marker
Therapy target
| | |
| mice defective for this protein have sensory neurodegeneration | |
protein level of BPAG1-b was reduced in muscle tissues from plectin-null mutant mice versus wild-type mice |