NP_001035932.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
50,735 Da
NCBI Official Full Name
melanophilin isoform 2
NCBI Official Synonym Full Names
melanophilin
NCBI Official Synonym Symbols
NCBI Protein Information
melanophilin
UniProt Protein Name
Melanophilin
UniProt Synonym Protein Names
Exophilin-3; Slp homolog lacking C2 domains a; SlaC2-a; Synaptotagmin-like protein 2a
UniProt Synonym Gene Names
NCBI Summary for MLPH
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. [provided by RefSeq, Jul 2013]
UniProt Comments for MLPH
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Research Articles on MLPH
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Products associated with MLPH recombinant protein
Pathways associated with MLPH recombinant protein
Diseases associated with MLPH recombinant protein
Organs/Tissues associated with MLPH recombinant protein
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