Entrez gene ID | | 1130 |
Official gene symbol | | LYST |
Full name | | lysosomal trafficking regulator |
Aliases | | ,CHS,CHS1, |
Gene summary | | This gene is thought to encode a protein that regulates intracellular protein trafficking to and from the lysosome. Mutations in this gene are associated with Chediak-Higashi syndrome, a rare lysosomal storage disorder. Alternatively spliced transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q42.1-q42.2 |
Gene position | | 236030220 - 235824343 Map Viewer |
Gene orientation | | minus |
Gene size | | 205878 bp |
Gene sequence |
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OMIM ID | | 606897 |
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