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.
Full Name
Golgi SNAP Receptor Complex Member 2
Function
Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
Biological Process
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
Cellular Location
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.
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.
Topology
Cytoplasmic: 1-190
Helical: 191-211
Vesicular: 212
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Anti-GOSR2 antibodies

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Mouse Anti-GOSR2 Recombinant Antibody (99) (CBMAB-AP2584LY)

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Target: GOSR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 99
Application*: WB, IF, IH
Datasheet SDS

Mouse Anti-GOSR2 Recombinant Antibody (49) (CBMAB-G4398-LY)

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Target: GOSR2
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: 49
Application*: WB, E, IF, IP
Datasheet SDS

Mouse Anti-GOSR2 Recombinant Antibody (25) (CBMAB-G0634-LY)

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Target: GOSR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 25
Application*: WB, E, P
Datasheet SDS

Mouse Anti-GOSR2 Recombinant Antibody (CBLG1-1536) (V2LY-0226-LY433)

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Target: GOSR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBLG1-1536
Application*: WB, E, IH
Datasheet SDS

Mouse Anti-GOSR2 Recombinant Antibody (G4399) (V2LY-0226-LY432)

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Target: GOSR2
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: G4399
Application*: WB, E, IF, IP
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IGImmunochromatography
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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