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Home > Product > Antibody > Rabbit Anti-Melanophilin antibody
2210418F23Rik; 5031433I09Rik; AW228792; D1Wsu84e; Exophilin 3; Exophilin-3; l(1)-3Rk; l1Rk3; Leaden; Leaden protein; ln; Melanophilin; MELPH_HUMAN; MGC2771; MGC59733; Mlph; Slac 2a; SlaC2-a; Slp homolog lacking C2 domains a; Synaptotagm
Cat:
SL18784R
Species Reactivity：
Rat,(predicted: Human,Mouse,)
Immunogen：
KLH conjugated synthetic peptide derived from human Melanophilin:451-550/600
Format：
Liquid
Storage instructions：
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration：
1mg/ml
Clonality：
Polyclonal
Isotype：
IgG
Applications：
WB=1:500-2000ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host：
Rabbit
Product Overview：
Paraformaldehyde-fixed, paraffin embedded (rat kidney); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Melanophilin) Polyclonal Antibody, Unconjugated (SL18784R) at 1:400 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
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Unit:
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Product PDFs
Datasheet:


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]

Function:
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.

Subcellular Location:
Cytoplasm.

DISEASE:
Defects in MLPH are a cause of Griscelli syndrome type 3 (GS3) [MIM:609227]. GS3 is a 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.

Similarity:
Contains 1 FYVE-type zinc finger.
Contains 1 RabBD (Rab-binding) domain.

SWISS:
Q9BV36

Gene ID:
79083

Database links:

Entrez Gene: 79083 Human

Omim: 606526 Human

SwissProt: Q9BV36 Human

Unigene: 10486 Human



Picture

Paraformaldehyde-fixed, paraffin embedded (rat kidney); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Melanophilin) Polyclonal Antibody, Unconjugated (SL18784R) at 1:400 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
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