General Description
This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. (provided by RefSeq)
Biological Activity
Synaptosomal-associated protein 29 kDa (SNAP-29) plays an important role in intra-Golgi traffic and regulates a variety of intracellular membrane trafficking pathways. SNAP-29 is capable of participating in various intracellular transport steps, by interacting with different syntaxins and vesicle-associated membrane proteins (VAMPs), specifically localized to different membrane compartments. It is present in synapses and is capable of interacting with syntaxin 1A. For binding to the N-ethylmale-imide-sensitive factor-attachment protein receptor (SNARE) complex, SNAP-29 competes with α-SNAP and subsequently controls synaptic transmission by preventing disassembly of the SNARE complex. It plays a role in the endocytosis of insulin-like growth factor 1 (IGF-1) receptors, by directly interacting with insulin like growth factor1 receptor (IGF1R). Bi-allelic mutations in SNAP-29 is associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome. In infants, deletion of chromosome 22q11.2 results in DiGeorge and Velocardial facial syndrome (22q11.2DS).
