Anti-MLPH Antibody Picoband® Fluoro647 Conjugated
Product Specifications
Background
Melanophilin is a carrier protein which in humans is encoded by the MLPH gene. 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.
Gene Name
MLPH
Gene ID
79083
UniProt
Q9BV36
Host
Rabbit
Reactivity
Human
Immunogen
E.coli-derived human Melanophilin/MLPH recombinant protein (Position: E61-L523) . Human Melanophilin/MLPH shares 61.6% amino acid (aa) sequence identity with mouse Melanophilin/MLPH.
Clonality
Polyclonal
Applications
Flow Cytometry
Purification
Immunogen affinity purified.
Form
Liquid
References & Citations
1. Cagdas, D., Ozgur, T. T., Asal, G. T., Tezcan, I., Metin, A., Lambert, N., de Saint Basile, G., Sanal, O. Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. Europ. J. Pediat. 171: 1527-1531, 2012. 2. Dagnewu, K. Y., Ayele, A., Liu, L., Pramanik, R., Onoufriadis, A., Abebe, E., McGrath, J. A. Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH. (Letter) Int. J. Derm. 59: e55-e57, 2020. 3. Demars, J., Iannuccelli, N., Utzeri, V. J., Auvinet, G., Riquet, J., Fontanesi, L., Allain, D. New insights into the melanophilin (MLPH) gene affecting coat color dilution in rabbits. Genes (Basel) 9: 430, 2018. Note: Electronic Article.
Storage Conditions
At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.
Applications Notes
6
Isotype
IgG
Contents
Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.
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