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QuickView for childhood, seizures (biogroup)
- Description:
- This entry consists of a group of SNAREs (soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors), including Golgi SNAP receptor complex member 2 (GOSR2), vesicle transport through interaction with t-SNAREs homologue 1 (VTI1) and the related proteins membrin (Memb11 and Memb12) in plants and Bos1 in yeasts. Bos1 is necessary for vesicular transport from the ER to the Golgi. GOSR2 is involved in protein transport through the Golgi apparatus. In Arabidopsis, Memb11 is a v-SNARE involved in anterograde protein trafficking at the ER-Golgi interface. In human, defects in GOSR2 are the cause of progressive myoclonic epilepsy type 6 (EPM6). A neurologic disorder characterised by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. SNARE proteins are a family of membrane-associated proteins characterised by an alpha-helical coiled-coil domain called the SNARE motif. These proteins are classified as v-SNAREs and t-SNAREs based on their localisation on vesicle or target membrane; another classification scheme defines R-, Qa-, Qb- and Qc-SNAREs according to sequence similarities. SNAREs are localised to distinct membrane compartments of the secretory and endocytic trafficking pathways, and contribute to the specificity of intracellular membrane fusion processes.
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