Description
Product Characteristics:
SNAP 29 is a 258 amino acid protein that localizes to the membrane and the cytoplasm, as well as to the cell junction, and contains one t-SNARE coiled-coil homology domain. Expressed in liver, heart, brain, kidney, placenta, lung, spleen, pancreas and skeletal muscle, SNAP 29 binds tightly to Syntaxins and, via this binding, is involved in membrane trafficking events. Defects in the gene encoding SNAP 29 are the cause of CEDNIK syndrome, a neurocutaneous syndrome that is associated with cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. The gene encoding SNAP 29 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: SNAP 29, SNAP-29, SNAP29, SNP29_HUMAN, Soluble 29 kDa NSF attachment protein, Synaptosomal associated protein 29, Synaptosomal associated protein 29 kDa, Synaptosomal-associated protein 29, Vesicle membrane fusion protein SNAP 29, Vesicle membrane fusion protein SNAP29, Vesicle-membrane fusion protein SNAP-29, CEDNIK, FLJ21051.
Target Information: 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, Jul 2008]