| Symbol
| SNAP25
| contributors: mct - updated : 12-01-2017
|
| HGNC name
| synaptosomal-associated protein, 25kDa
|
| HGNC id
| 11132
|
| corresponding disease(s)
|
CMS18
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --low
|
|
significant decrease in SNAP25 expression in Alzheimer disease (AD) across all the three brain regions in relation to the healthy elderly subjects, suggesting impairment in synaptic function, but no AD-associated differences in SNAP25 promoter DNA methylation were observed  | | tumoral
|
|
| --other
|
| |
SH3BP5, LMO3, and SNAP25, were detected in diffuse large B-cell lymphoma | |
| Susceptibility
|
to attention deficit hyperactivity disorder 2 with preferential transmission of paternal alleles to developmental and epileptic encephalopathy (DEE) to early-onset bipolar disorder |
| Variant & Polymorphism
SNP
, repeat
| SNPs (rs3746544, rs1051312) associated to attention deficit hyperactivity disorder |
|
c.118A>G [p.Lys40Glu], c.127G>C [p.Gly43Arg] associated to DEE |
|
promoter variant in SNAP25, rs6039769, is associated with early-onset bipolar disorder and a higher gene expression level in human prefrontal cortex |
| 
|
Candidate gene
| Marker
| significantly higher levels of cerebrospinal fluid SNAP25 fragments in Alzheimer disease, even in the very early stages, and synaptic biomarkers may be important tools for early diagnosis, assessment of disease progression, and to monitor drug effects in treatment trials | Therapy target
|
| | |
|
| Snap-25b-deficient mice fed with control diet developed hyperglycemia, liver steatosis, and adipocyte hypertrophy, conditions dramatically exacerbated when combined with the high-fat/high-sucrose diet |