MLPH (melanophilin) belongs to the family of synaptotagmin-like proteins and is a Rab27A effector. It is a component of a tripartite complex, which also includes myosin-Va and Rab27A. Its N-terminal contains an Slp homolody domain (SHD), which interacts with GTP-bound form of Rab27A/B, and a myosin Va-binding region in its C-terminal. Also, amino acids 400-590 in the C-terminal, directly bind to actin. It contains two a-helices (SHD1 and SHD2), which are conserved in nature. These two regions are intervened by two zinc finger motifs. This gene is localized to human chromosome 2q37.3.
Synonyms: Anti-Exophilin-3; Anti-Melanophilin; Anti-SlaC2-a; Anti-Slp homolog lacking C2 domains a; Anti-Synaptotagmin-like protein 2a
Storage: -20C
Application: Applications in which this antibody has been used successfully, and the associated peer-reviewed papers, are given below.Immunohistochemistry (1 paper)
Biochem Physiol Actions: MLPH (melanophilin) acts as a receptor for myosin-Va in melanocytes. It forms part of a protein complex, which includes myosin-Va and Rab27A, and is essential for the transport of melanosome from perinuclear region to the actin-rich periphery of melanocytes. Thus, normal melanosome distribution is dependent on this protein. It acts as a linker between myosin-Va and Rab27A, and facilitates the binding of melanosomes with actin network. It might also be a key player in the instantaneous skin tanning in humans, when exposed to sun. Mutation in MLPH gene leads to mice with light coat color, called leaden mice. It is the outcome of aberrant melanosome transportation. Homozygous missense mutation occurring in the Slp homology domain of this protein is associated with Griscelli syndrome type III (GSIII). This protein is under-expressed in GSIII melanocytes, and such patients are characterized by silvery-gray hair and hypopigmentation of the skin.
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