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LYST is 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.
Gene Name: | lysosomal trafficking regulator |
Synonyms: | LYST, Beige protein, CHS, Beige homolog, Chediak-Higashi syndrome 1, CHS1 |
Target Sequences: | NM_000081 NP_000072.2 Q99698 |
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