MLPH

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Full Name
Melanophilin
Function
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Biological Process
Intracellular protein transport Source: InterPro
Melanosome transport Source: UniProtKB
Cellular Location
Cytoplasm
Involvement in disease
Griscelli syndrome 3 (GS3):
Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.
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Anti-MLPH antibodies

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Mouse Anti-MLPH Recombinant Antibody (A1131) (CBMAB-AP11715LY)

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Target: MLPH
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: A1131
Application*: ELISA, IF, IHC, WB
Datasheet SDS

Mouse Anti-MLPH (AA 295-600) Recombinant Antibody (CBFYM-2312) (CBMAB-M2497-FY)

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Target: MLPH
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYM-2312
Application*: WB, IH
Datasheet SDS

Mouse Anti-MLPH Recombinant Antibody (CF288) (CBMAB-FT217LY)

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Target: MLPH
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CF288
Application*: ELISA, WB, IF, IHC
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
  • 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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