Hermansky-Pudlak syndrome 4

Symbol

HPS4 (may also be known as: None)

Organism

Human

Description

This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Orthologs

SymbolSpecies
HPS4 Drosophila melanogaster
hps4 Danio rerio
Hps4 Mus musculus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA4227 Gene expression of HPS4 increases with age Molecular skin Human HPS4 —

GO Terms

GO IDGO TermGO Category
GO:0006605 protein targeting biological_process
GO:0006996 organelle organization biological_process
GO:0007040 lysosome organization biological_process
GO:0007596 blood coagulation biological_process
GO:0007599 hemostasis biological_process
GO:0030318 melanocyte differentiation biological_process
GO:0048075 positive regulation of eye pigmentation biological_process
GO:0050821 protein stabilization biological_process
GO:0005624 membrane fraction cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005764 lysosome cellular_component
GO:0016023 cytoplasmic membrane-bounded vesicle cellular_component
GO:0042470 melanosome cellular_component
GO:0042827 platelet dense granule cellular_component
GO:0005515 protein binding molecular_function
GO:0042803 protein homodimerization activity molecular_function
GO:0046983 protein dimerization activity molecular_function