Primary Identifier | IPR030464 | Type | Family |
Short Name | LYST |
description | Lysosomal-trafficking regulator (LYST) is a large BEACH domain-containing protein that affects lysosome size and quantity []. LYST controls the terminal maturation of perforin-containing vesicles into secretory granules []. Mutations in the LYST gene causes Chediak-Higashi syndrome, which is a rare autosomal-recessive syndrome characterised by hypopigmentation, severe immune deficiency, a bleeding tendency and progressive neurological dysfunction [, ]. |