Recombinant fragment Predicted to work with:
Recombinant fragment, corresponding to amino acids 1-101 of Human LYST with proprietary tag (NP_000072).
Abcam is committed to meeting high standards of ethical manufacturing and has decided to discontinue this product by June 2019 as it has been generated by the ascites method. We are sorry for any inconvenience this may cause. We would recommend antibody ab220481 as a replacement.
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent dilution.
Use a concentration of 10 µg/ml.
May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.
Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain.
Involvement in disease
Defects in LYST are the cause of Chediak-Higashi syndrome (CHS) [MIM:214500]. 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).