Gene Symbol | LYST |
Entrez Gene ID | 1130 |
Full Name | lysosomal trafficking regulator |
Synonyms | CHS,CHS1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Chediak-Higashi syndrome, 214500 (3) |