Inherited disorders of trafficking
Inherited disorders of trafficking (IDT) are a family of disorders that involve
proteins.[1]
They were characterized in 1975.[2]
SNAP Receptor (SNARE) protein family.[3] SNARE proteins assist with vesicle trafficking and are responsible for the fusion events between the membranes of vesicles and the membranes of their targets. There are two types of SNARE proteins, v-SNARE's which are located on vesicle membranes, and t-SNARE's that are located on target membranes.[4] SNAP29 is a t-SNARE, and as a t-SNARE, this protein must form a complex with v-SNARE's for fusion of vesicles and secretion of their load to occur. A mutation/deficiency in this protein which occurs in patients with CEDNIK syndrome results in an impaired maturation and secretion of lamellar granules—these are vesicular structures derived from the Golgi.[3] SNAP29 is necessary for proper epidermal differentiation.[3] Mutations in SNAP29 result in problems with molecular trafficking and transport, and leads to CEDNIK syndrome.[citation needed
]
References
- PMID 17526798.
- S2CID 41913503.
- ^ S2CID 8121441.
- ^ Lodish, H., Berk, A., Kaiser, C., Krieger, M., Bretscher, A., Ploegh, H., & Amon, A. (2013). Molecular Cell Biology (7th ed.). New York, NY: W. H. Freeman and Company.[page needed]
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