Spastic Paraplegia 7 (SPG7)

Paraplegin is a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) protein 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. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7.The full-length cDNA sequence corresponding to this gene encoded a deduced 795-amino acid protein, which they named paraplegin. Two additional hybridizing transcripts of approximately 2.6 and 7.5 kb were detected in heart and pancreas.