LYST Antibody – Mouse Monoclonal

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]

LYST: May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. Defects in LYST are the cause of Chediak-Higashi syndrome (CHS). CHS is a rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1q42.1-q42.2

Cellular Component: microtubule cytoskeleton; extrinsic to membrane; endomembrane system; cytosol

Molecular Function: protein binding; phospholipid binding

Biological Process: response to drug; secretion of lysosomal enzymes; natural killer cell mediated cytotoxicity; T cell mediated immunity; leukocyte chemotaxis; neutrophil mediated immunity; mast cell secretory granule organization and biogenesis; defense response to protozoan; endosome to lysosome transport via multivesicular body sorting pathway; positive regulation of natural killer cell activation; microtubule-based process; pigmentation; melanosome organization and biogenesis; lysosome organization and biogenesis; phospholipid metabolic process; defense response to bacterium; blood coagulation; defense response to virus; phospholipid homeostasis

Disease: Chediak-higashi Syndrome