The MCOLN1 gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolipin-1 plays a role in the transport (trafficking) of fats (lipids) and proteins between lysosomes and endosomes.
Mucolipin-1 acts as a channel, allowing positively charged atoms (cations) to cross the membranes of lysosomes and endosomes. It remains unclear which cations are allowed to flow through this channel. Mucolipin-1 appears to be important for the development and maintenance of the brain and light-sensitive tissue at the back of the eye (retina). In addition, this protein is likely critical for normal functioning of the cells in the stomach that produce digestive acids.
Other Names
MCLN1_HUMAN; ML4; MLIV; MST080; MSTP080; mucolipidin; TRP-ML1; TRPML1
Related Genetics Topics
Identifiers
- NCBI Gene: 57192
- OMIM: 605248
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
