VPS50
VPS50 (VPS50, EARP/GARPII Complex Subunit) is a Protein Coding gene.
Full Name
VPS50, EARP/GARPII Complex Subunit
Function
Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane. Within the EARP complex, required to tether the complex to recycling endosomes. Not involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN).
Biological Process
Biological Process endocytic recycling Source:MGI1 Publication
Biological Process protein transport Source:UniProtKB-KW
Biological Process protein transport Source:UniProtKB-KW
Cellular Location
Recycling endosome
Membrane
Associates with membranes in an EIPR1-dependent manner.
Membrane
Associates with membranes in an EIPR1-dependent manner.
Involvement in disease
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (NEDMSC):
An autosomal recessive disorder with onset at birth, characterized by severe global developmental delay, profoundly impaired intellectual development, progressive microcephaly, seizures, and transient neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur.
An autosomal recessive disorder with onset at birth, characterized by severe global developmental delay, profoundly impaired intellectual development, progressive microcephaly, seizures, and transient neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur.
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Anti-VPS50 antibodies
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Target: VPS50
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 2D11
Application*: E, IF, WB
Target: VPS50
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBXC-1737
Application*: WB, IP, IF, E
Target: VPS50
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 2D11
Application*: E, IF, WB
Target: VPS50
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBXF-3302
Application*: E, 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
- 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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