Symbol
| SNAP29
| contributors: mct/ - updated : 20-08-2015
|
HGNC name
| synaptosomal-associated protein, 29kDa
|
HGNC id
| 11133
|
corresponding disease(s)
|
CEDNIK
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
| loss of function
|
hemizygous deletions modifying phenotype in 22q11DS patients | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| abundance of Snap29 in sciatic nerves was increased during remyelination and in a rat model of Charcot-Marie-Tooth disease, two pathological situations with increased myelin membrane biogenesis |