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.
蛋白别名: cell adhesion regulator; Cell matrix adhesion regulator; Paraplegin; paraplegin, isoform 1; spastic paraplegia 7 (pure and complicated autosomal recessive); Spastic paraplegia 7 protein
基因别名: AI452278; AU015315; CAR; CMAR; PGN; SPG5C; SPG7