Synaptosomal-associated protein 29
Function
SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Also plays a role in ciliogenesis by regulating membrane fusions.
Involvement in disease
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
CEDNIK
A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SNAP-25 family.
Tissue Specificity
Found in brain, heart, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas.
Cellular localization
- Cytoplasm
- Golgi apparatus membrane
- Peripheral membrane protein
- Cytoplasmic vesicle
- Autophagosome membrane
- Peripheral membrane protein
- Cell projection
- Cilium membrane
- Peripheral membrane protein
- Appears to be mostly membrane-bound, probably via interaction with syntaxins, but a significant portion is cytoplasmic. Localizes to the ciliary pocket from where the cilium protrudes.
Alternative names
Synaptosomal-associated protein 29, SNAP-29, Soluble 29 kDa NSF attachment protein, Vesicle-membrane fusion protein SNAP-29, SNAP29