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LYST lysosomal trafficking regulator

Also known as: CHS; CHS1


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]

Genomic context

Chromosome: 1; NC_000001.11 (235661031..235883708, complement)
Total number of exons:


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