MLPH cDNA
MLPH 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.
Product Specifications
Product Name Alternative
SLAC2-A
Chromosomal Location
2q37.3
Antigen Species
Human
Vector Type
PATGen (puc19-derived cloning vector)
Sequence
Additionnal Information
Storage Conditions
Store the plasmid at -20C.
Formulation
Lyophilized
Scientific Category
Neuroscience
Omim
606526
NCBI Accession Number
NP_001035932.1
Species
Human
Preparation
RNA Reference
NM_001042467.2
DNA Size
1719bp
Vector Description
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