The SPAST gene provides instructions for producing a protein called spastin, which is a member of the AAA protein family. This protein family plays a role in many cellular activities, including regulation of cell components and proteins. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell’s structural framework (the cytoskeleton). Microtubules are also involved in transporting cell compartments (organelles) and facilitating cell division. Spastin likely helps regulate microtubule length and disassemble microtubule structures when they are no longer needed.
Other Names
ADPSP; FSP2; KIAA1083; SPAST_HUMAN; spastic paraplegia 4 (autosomal dominant; spastin); SPG4
Related Genetics Topics
Identifiers
- NCBI Gene: 6683
- OMIM: 604277
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
