MCOLN1

MCOLN1, also known as Mucolipid TRP Cation Channel 1, and by other names such as ML4, MLIV, MST080, TRP-ML1, TRPM-L1, and TRPML1, is a transmembrane protein encoded by the MCOLN1 gene. It is a member of the transient receptor potential (TRP) channel superfamily, primarily expressed on intracellular vesicle membranes, including lysosomes, and is involved in regulating the acidic environment of lysosomes and intracellular calcium ion balance. The mechanism of action for MCOLN1 involves selective permeability to various cations, such as Ca2+, Fe2+, Na+, and K+, and its activity is regulated by changes in intracellular calcium ion concentration.

MCOLN1 is involved in various important cellular processes, including lysosomal maturation, protein transport from the endoplasmic reticulum to the Golgi apparatus, lysosomal membrane remodeling, and cellular autophagy. Dysfunctions in MCOLN1 are associated with various diseases, particularly with mucolipidosis type IV, a lysosomal storage disease characterized by severe psychomotor developmental delay, retinal degeneration, corneal clouding, and achlorhydria. Additionally, MCOLN1 may be involved in regulating the cellular response to oxidative stress, iron ion transport, and membrane repair processes.