Golgi SNAP Receptor Complex Member 2 (GOSR2) Antibody – Rabbit Polyclonal

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GOSR2: Involved in transport of proteins from the cis/medial- Golgi to the trans-Golgi network. Defects in GOSR2 are the cause of progressive myoclonic epilepsy type 6 (EPM6). A neurologic disorder 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. Belongs to the GOSR2 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Endoplasmic reticulum; Membrane protein, integral

Chromosomal Location of Human Ortholog: 17q21

Cellular Component: SNARE complex; Golgi membrane; Golgi apparatus; endoplasmic reticulum membrane; Golgi stack; membrane; late endosome membrane; integral to membrane

Molecular Function: SNAP receptor activity; SNARE binding; transporter activity

Biological Process: intra-Golgi vesicle-mediated transport; ER to Golgi vesicle-mediated transport; cellular protein metabolic process; unfolded protein response, activation of signaling protein activity; unfolded protein response; Golgi to vacuole transport; protein targeting to vacuole; vesicle fusion with Golgi apparatus; retrograde transport, endosome to Golgi

Disease: Epilepsy, Progressive Myoclonic 6