GOSR2

An identical-by-descent, homozygous mutation in GOSR2, a Golgi vesicle transport gene, was identified in this patient and in four apparently unrelated individuals.

Golgi SNAP Receptor Complex Member 2

Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.

Golgi to vacuole transport Source: GO_Central
Intra-Golgi vesicle-mediated transport Source: UniProtKB
Protein targeting to vacuole Source: GO_Central
Retrograde transport, endosome to Golgi Source: GO_Central
Vesicle fusion with Golgi apparatus Source: GO_Central

Cis-Golgi network membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane. Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus.

Epilepsy, progressive myoclonic 6 (EPM6):
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM6 is an autosomal recessive form characterized 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. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.

Cytoplasmic: 1-190
Helical: 191-211
Vesicular: 212