Technical Data
038486
MLPH, CT (MLPH, SLAC2A, Melanophilin, Exophilin-3, Slp homolog lacking C2 domains a, Synaptotagmin-like protein 2a)
Description:
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 of this gene have been described, but the full-length nature of some of these variants has not been determined.

Applications:
Suitable for use in Western Blot, Immunohistochemistry, ELISA

Recommended Dilution:
ELISA: 1:1,000
Western Blot: 1:100-500
Immunohistochemistry: 1:10-50

Storage and Stability:
May be stored at 4C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
TypeIsotypeCloneGrade
PabIgGAffinity Purified
SizeStorageShippingSourceHost
200ul-20CBlue IceHumanRabbit
Concentration:
As reported
Immunogen:
MLPH antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 540-569 amino acids from the C-terminal region of human MLPH.
Purity:
Purified by Protein A affinity chromatography.
Form
Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.
Specificity:
Human
Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.
Park, J.W., et al. J. Med. Genet. 43(7):598-608(2006)
Seabra, M.C., et al. Traffic 5(6):393-399(2004)
Fukuda, M., et al. J. Cell. Sci. 117 (PT 4), 583-591 (2004) :
Lukusa, T., et al. Genet. Couns. 15(3):293-301(2004)
Menasche, G., et al. J. Clin. Invest. 112(3):450-456(2003)