Entity Details

Primary name MLPH
Entity type gene
Source Source Link

Details

PrimaryID79083
RefseqGeneNG_007286
SymbolMLPH
Namemelanophilin
Chromosome2
Location2q37.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-31
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMELPH_HUMAN

GO terms

Show/Hide Table
GOName
GO:0003779 actin binding
GO:0006886 intracellular protein transport
GO:0017022 myosin binding
GO:0030425 dendrite
GO:0030674 protein-macromolecule adaptor activity
GO:0030864 cortical actin cytoskeleton
GO:0031267 small GTPase binding
GO:0032402 melanosome transport
GO:0046872 metal ion binding
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome

Diseases

Show/Hide Table
Disease IDSourceNameDescription
609227 OMIMGriscelli syndrome 3 (GS3)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. The disease is caused by variants affecting the gene represented in this entry.