SNAP29

Chr 22

synaptosome associated protein 29

Also known as: CEDNIK, SNAP-29

NCBI Gene: 9342 ENSG00000099940 UniProt: O95721

The SNAP29 protein is a SNARE that mediates membrane fusion events, particularly autophagosome-lysosome fusion during autophagy and membrane fusions required for ciliogenesis. Biallelic mutations cause cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, a multisystem disorder affecting the brain, peripheral nerves, and skin with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants in the general population (high LOEUF score), suggesting complete loss of function may be required for disease manifestation.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.86

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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