Mucolipin 1 is also known as TRPML1 and in humans is a protein that is coded for (or created by) the MCOLN1 gene. It is a member of the small family of TRPML family of channels that help regulate how cells function. In this case, it is believed that TRPML1 helps to maintain proper functioning of the lysosome in cells which is crucial for managing cellular waste. When TRPML1 is absent or depleted due to MCOLN1 gene mutations, waste accumulations of proteins and lipids cause cellular dysfunction.
