SNAP29 Gene

The SNAP29 gene (SNAP29 stands for "Synaptosome Associated Protein 29") is a protein coding gene located on chromosome 22q11.21. The SNAP29 gene is a member of the SNAP25 gene family. The encoded protein is involved in several steps of membrane transport. It binds tightly to several syntaxins and is localized to intracellular membrane structures rather than the plasma membrane. Although most of the protein is membrane-bound, a significant portion of it resides freely in the cytoplasm.

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 with the plasma membrane.

Diseases associated with SNAP29 include:

• Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma syndrome(CEDNIK syndrome; OMIM:609528): The syndrome belongs to the very rare congenital neuro-cutaneous disorders counted with ichthyosis, palmoplantar keratosis and additional developmental disorders of the nervous system. The disease is inherited in an autosomal recessive manner (Bansal V et al. 2021).
• Leukodystrophy, hypomyelinating, 2nd ( Leukodystrophy, Hypomyelinating, 2; OMIM: 608804).

1. Poojary S et al (2019) CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. Pediatr Dermatol 36:372-376.
2. Fuchs-Telem D et al (2011) CEDNIK syndrome results from loss-of-function mutations in SNAP29. Br J Dermatol 164:610-616.
3. Morelli E et al (2021) Activity of the SNARE protein SNAP29 at the endoplasmic reticulum and Golgi apparatus. Front Cell Dev Biol 9:637565.