Rabbit Anti-Melanophilin/FITC Conjugated antibody

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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-FITC

Species Reactivity：

(predicted: Human,Mouse,Rat,)

Immunogen：

KLH conjugated synthetic peptide derived from human Melanophilin

Format：

Lyophilized or Liquid

Storage instructions：

Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant

Buffer：

0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

Calculated MW：

66kDa

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Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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background:
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.

Database links:

Entrez Gene: 79083 Human

Omim: 606526 Human

SwissProt: Q9BV36 Human

Unigene: 10486 Human

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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