Lysosomal Trafficking Regulator (LYST)

Lysosomal Trafficking Regulator 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.

The sequence of the 'beige' gene transcript showed strong nucleotide homology to multiple human ESTs, one or more of which may be associated with the gene that is mutant in Chediak-Higashi syndrome. The predicted 2,186-amino acid polypeptide shows significant amino acid homology to orphan proteins identified in Saccharomyces cerevisiae (CDC4), Caenorhabditis elegans, and humans (CDC4L).