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
UniProt Entry Name
MELPH_HUMAN
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
MLPH: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. Defects in MLPH are a cause of Griscelli syndrome type 3 (GS3). GS3 is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 2q37.3
Cellular Component: cortical actin cytoskeleton; dendrite; perinuclear region of cytoplasm
Molecular Function: actin binding; myosin binding; protein binding; Rab GTPase binding
Biological Process: vesicle transport along actin filament
Disease: Griscelli Syndrome, Type 3
Research Articles on MLPH
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Products associated with anti-MLPH antibody
Pathways associated with anti-MLPH antibody
Diseases associated with anti-MLPH antibody
Organs/Tissues associated with anti-MLPH antibody
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