GOSR2
Function
Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Muscular dystrophy, congenital, with or without seizures
MYOS
An autosomal recessive muscular dystrophy characterized by hypotonia and elevated serum creatine kinase levels apparent from birth. Patients have progressive muscle weakness, areflexia, and may develop seizures in early childhood or have abnormal epileptiform findings on electroencephalogram studies.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the GOSR2 family.
Cellular localization
- Golgi apparatus
- cis-Golgi network membrane
- Single-pass type IV membrane protein
- 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.
Alternative names
GS27, GOSR2, Golgi SNAP receptor complex member 2, 27 kDa Golgi SNARE protein, Membrin