靶标:
SPG7
产品别名:
CAR; CMAR; PGN; SPG5C; SPG7; SPG7 matrix AAA peptidase subunit, paraplegin; SPG7 matrix AAA peptidase subunit, paraplegin; paraplegin; SPG7, paraplegin matrix AAA peptidase subunit; cell matrix adhesion regulator; spastic paraplegia 7 (pure and complicated autosomal recessive); spastic paraplegia 7 protein; 痉挛性截瘫蛋白7/基质细胞粘附调节蛋白;
背景信息:
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. [provided by RefSeq, Mar 2014],