The SPART gene provides instructions for producing a protein called spartin. Spartin is found in a number of body tissues, including the brain. Research shows that spartin likely plays a role in regulating the activity of endosomes, which are structures inside the cell that are involved in sorting, transporting, and recycling proteins and other materials. Spartin may also play a role in mitochondrial function. Mitochondria are the energy-producing centers inside the cell.
Spartin is also believed to regulate the size and number of lipid droplets inside the cell. Specifically, spartin may be involved in delivering lipid droplets to the cell’s recycling center. Lipid droplets help cells use and store fats, which are an important energy source. Spartin may also be involved in transporting materials from the cell surface into the cell (endocytosis).
Other Names
KIAA0610; SPARTIN; SPG20; TAHCCP1
Related Genetics Topics
Identifiers
- NCBI Gene: 23111
- OMIM: 607111
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
