SPG7 : SPG7 matrix AAA peptidase subunit, paraplegin
Description
The SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) is a protein-coding gene located on chromosome 16.
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.
SPG7 is an ATP-dependent zinc metalloprotease that contributes to the formation and regulation of the mitochondrial permeability transition pore (mPTP). Interestingly, its proteolytic activity is not essential for this function.
SPG7 is also known as CAR, CMAR, PGN, SPG5C.
Associated Diseases
- Spastic paraplegia type 7
- Spastic paraplegia 7, autosomal recessive
- Primary lateral sclerosis
- Progressive external ophthalmoplegia
