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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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