Mucolipin-1 or MCOLN1

By February 28, 2023

names for the gene that is missing, in part or completely, in patients with mucolipidosis type IV disease. The extent of the mucolipin-1 loss is thought to be linked to the kind of mutation the patient has; most patients are of Eastern European Jewish heritage and have the same two mutations which cause a complete loss of mucolipin-1 protein and the most severe form of the disease.