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

The product is antibody recognizes MLPH. The antibody CF288 immunoassay techniques such as: ELISA, WB, IF, IHC.
See all MLPH antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CF288
Antibody Isotype
IgG2a
Application
ELISA, WB, IF, IHC

Basic Information

Immunogen
melanophilin
Specificity
Human
Antibody Isotype
IgG2a
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
50% glycerol
Preservative
0.02% sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Melanophilin
Introduction
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]
Entrez Gene ID
79083
UniProt ID
Q9BV36
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.

Kim, J. Y., Han, S. Y., Sung, K., Seo, J. Y., Myung, C. H., Jo, C. S., ... & Hwang, J. S. (2023). Inhibition of Melanosome Transport by Inducing Exon Skipping in Melanophilin. Biomolecules & Therapeutics, 31(4), 466.

Pan, J., Zhou, R., Yao, L. L., Zhang, J., Zhang, N., Cao, Q. J., ... & Li, X. D. (2023). Melanophilin mediates the association of myosin-5a with melanosome via three distinct interactions. bioRxiv, 2023-11.

Yuan, Z., Zhang, X., Pang, Y., Qi, Y., Wang, Q., Hu, Y., ... & Huo, L. (2023). Association analysis of melanophilin (MLPH) gene expression and polymorphism with plumage color in quail. Archives Animal Breeding, 66(1), 131-139.

Myung, C. H., Lee, J. E., Jo, C. S., Park, J. I., & Hwang, J. S. (2021). Regulation of Melanophilin (Mlph) gene expression by the glucocorticoid receptor (GR). Scientific Reports, 11(1), 16813.

Ermini, L., Francis, J. C., Rosa, G. S., Rose, A. J., Ning, J., Greaves, M., & Swain, A. (2021). Evolutionary selection of alleles in the melanophilin gene that impacts on prostate organ function and cancer risk. Evolution, Medicine, and Public Health, 9(1), 311-321.

Li, J., Chen, Y., Liu, M., Chen, Q., Zhou, J., Bao, G., & Wu, X. (2020). Association of Melanophilin (MLPH) gene polymorphism with coat colour in Rex rabbits. World Rabbit Science, 28(1), 29-38.

Cao, Q. J., Zhang, N., Zhou, R., Yao, L. L., & Li, X. D. (2019). The cargo adaptor proteins RILPL2 and melanophilin co-regulate myosin-5a motor activity. Journal of Biological Chemistry, 294(29), 11333-11341.

Robinson, C. L., Evans, R. D., Sivarasa, K., Ramalho, J. S., Briggs, D. A., & Hume, A. N. (2019). The adaptor protein melanophilin regulates dynamic myosin-Va: cargo interaction and dendrite development in melanocytes. Molecular Biology of the Cell, 30(6), 742-752.

Park, J. I., Lee, J. E., Myung, C. H., Jo, C. S., Jang, H. S., & Hwang, J. S. (2019). The absence of Rab27a accelerates the degradation of Melanophilin. Experimental Dermatology, 28(1), 90-93.

Chung, C. T., Marrano, P., Swanson, D., Dickson, B. C., & Thorner, P. S. (2019). Fusion of ALK to the melanophilin gene MLPH in pediatric Spitz nevi. Human Pathology, 87, 57-64.

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For research use only. Not intended for any clinical use.

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We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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