Anti-MLPH Antibody Picoband® 31.0550 Vervoeging

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.

MLPH

79083

Q9BV36

Human

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.

Flow Cytometry

Immunogen affinity purified.

Liquid

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.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

6

IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.