The SPG7 gene provides instructions for producing a protein called paraplegin, 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. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. The m-AAA protease is responsible for assembling ribosomes (cellular structures that process the cell’s genetic instructions to create proteins) and removing nonfunctional proteins in the mitochondria.
Other Names
CAR; cell adhesion regulator; CMAR; FLJ37308; MGC126331; MGC126332; paraplegin, isoform 1; PGN; spastic paraplegia 7; spastic paraplegia 7 (pure and complicated autosomal recessive); SPG5C; SPG7_HUMAN
Related Genetics Topics
- Spastic paraplegia type 7 — MedlinePlus Genetics
- Progressive external ophthalmoplegia — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6687
- OMIM: 602783
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
