LYST
MIM.606897 1q42
The LYST gene encodes a cytosolic protein named lysosomal-trafficking regulator.
The structure of this protein is similar to that of a well-characterized protein involved in vacuolar sorting in budding yeast, a model corresponding to lysosomal-protein transport in mammals.
Pathology
Chediak-Higashi disease is caused by LYST mutations at 1q42 (MIM.214500).
This finding, together with the abnormal distribution of late endosomal or lysosomal proteins in cells from patients with the Chédiak-Higashi syndrome, is consistent with the idea that a primary defect in molecular sorting occurs in the Golgi apparatus or endosomes.
References
Griffiths GM. Albinism and immunity: what?s the link? Curr Mol Med. 2002 Aug;2(5):479-83. PMID: 12125813
Olkkonen VM, Ikonen E. Genetic defects of intracellular-membrane transport. N Engl J Med. 2000 Oct 12;343(15):1095-104. PMID: 11027745
Barbosa MDSF, Nguyen QA, Tchernev VT, et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996;382:262-265.