Mutations in the CHS1 gene (also called LYST) located on the chromosome 1q42-q43 have been found to be connected with<unk> . This gene provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays a role in the transport (trafficking) of materials into lysosomes. Lysosomes act as recycling centers within cells. They use digestive enzymes to break down toxic substances, digest bacteria that invade the cell and recycle worn-out cell components. Although the lysosomal trafficking regulator protein is involved in the normal function of lysosomes, its exact role is unknown. In melanocytic cells, LYST gene expression may be regulated by MITF. Mutations in MITF are known to cause Waardenburg syndrome type 2 and Tietz syndrome, which result in depigmentation and deafness.
Chédiak–Higashi syndrome
Severe combined immunodeficiency
SAPHO syndrome
Common variable immunodeficiency
Wiskott–Aldrich syndrome
Kabuki syndrome
X-linked severe combined immunodeficiency
Kasabach–Merritt syndrome