Recombinant Human Paraplegin (SPG7), Truncated

Uniprot Id

Q9UQ90

Target Species

Human

Target Name

SPG7

Target Full Name

Mitochondrial inner membrane m-AAA protease component paraplegin

Target Function

ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function.

Target Involvement

Spastic paraplegia 7, autosomal recessive (SPG7)

Target Subcellular Location

Mitochondrion inner membrane; Multi-pass membrane protein.

Target Protein Families

AAA ATPase family; Peptidase M41 family

Target Tissue Specificity

Ubiquitous.

Target Synonyms

SPG7; CAR; CMAR; PGN; Paraplegin; Cell matrix adhesion regulator; Spastic paraplegia 7 protein

Target Background

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified.