LYST, Official Symbol LYSTprovided by HGNC Official Full Name lysosomal trafficking regulatorprovided by HGNC Primary source HGNC:HGNC:1968 See related Ensembl:ENSG00000143669 MIM:606897; AllianceGenome:HGNC:1968 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CHS; CHS1; Mauve 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] Expression Broad expression in bone marrow (RPKM 12.2), skin (RPKM 4.6) and 24 other tissues See more Orthologs mouse all