SNAP29

SNAP29 is a protein that in humans is encoded by the SNAP29 gene. It is a member of the SNARE family, which are involved in vesicle trafficking. Mutations in this gene are associated with Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome.

Function

The SNAP29 protein is a SNARE that interacts with other SNAREs to mediate vesicle fusion, a process that transports lipids, proteins, and large molecules across cell membranes. This protein is involved in multiple cellular processes including Golgi membrane fusion, cytokinesis, and autophagy.

Clinical significance

Mutations in the SNAP29 gene cause CEDNIK syndrome, a rare autosomal recessive disorder. Symptoms of CEDNIK syndrome include severe mental retardation, spastic quadriplegia, and skin abnormalities.

See also

• SNARE proteins
• Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome

References

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External links

• NCBI Gene
• UniProt