Entrez Summary: This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013].
UniProt Summary: May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.
Pfam DomainsGO Terms
Pfam Domains
Beach
GO Terms
mast cell secretory granule organization
endosome to lysosome transport via multivesicular body sorting pathway
defense response to protozoan
melanosome organization
response to protozoan
pigment granule organization
endosome transport via multivesicular body sorting pathway
natural killer cell mediated cytotoxicity
natural killer cell mediated immunity
multivesicular body sorting pathway
secretory granule organization
leukocyte mediated cytotoxicity
cellular pigmentation
endosome to lysosome transport
lytic vacuole organization
lysosome organization
cell killing
pigmentation
lysosomal transport
vacuole organization
vacuolar transport
leukocyte chemotaxis
microtubule cytoskeleton
defense response to virus
cell chemotaxis
endosomal transport
lymphocyte mediated immunity
response to virus
vesicle organization
defense response to bacterium
leukocyte migration
endomembrane system organization
chemotaxis
taxis
response to bacterium
innate immune response
leukocyte mediated immunity
defense response to other organism
cell migration
localization of cell
cell motility
immune effector process
response to other organism
response to external biotic stimulus
locomotion
response to biotic stimulus
defense response
protein transport
intracellular transport
peptide transport
movement of cell or subcellular component
amide transport
establishment of protein localization
establishment of localization in cell
nitrogen compound transport
immune response
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)