COG6
This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants
Full Name
component of oligomeric golgi complex 6
Function
Required for normal Golgi function.
Biological Process
Endoplasmic reticulum to Golgi vesicle-mediated transport Source: Reactome
Glycosylation Source: UniProtKB
Intra-Golgi vesicle-mediated transport Source: GO_Central
Protein transport Source: UniProtKB-KW
Glycosylation Source: UniProtKB
Intra-Golgi vesicle-mediated transport Source: GO_Central
Protein transport Source: UniProtKB-KW
Cellular Location
Golgi apparatus membrane
Involvement in disease
Congenital disorder of glycosylation 2L (CDG2L):
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy.
Shaheen syndrome (SHNS):
An autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly.
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy.
Shaheen syndrome (SHNS):
An autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly.
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Anti-COG6 antibodies
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CompareTarget: COG6
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CBYY-C3046
Application*: IH, WB
Target: COG6
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human, Mouse, Rat
Clone: CBFYC-2028
Application*: IH, WB
Target: COG6
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYC-2027
Application*: WB, IP, E
Target: COG6
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat, Monkey
Clone: 1B8
Application*: IH, WB, IF
Target: COG6
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 5B5
Application*: E, WB
Target: COG6
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 2D8
Application*: IH, WB
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For Research Use Only. Not For Clinical Use.
(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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