SPG7 Antibody – Rabbit Polyclonal

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]

SPG7: Putative ATP-dependent zinc metalloprotease. Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7). Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions. Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; EC 3.4.24.-; Membrane protein, multi-pass; Cell adhesion; Mitochondrial; Protease; Motility/polarity/chemotaxis; Chaperone

Chromosomal Location of Human Ortholog: 16q24.3

Cellular Component: mitochondrion; mitochondrial membrane; integral to membrane

Molecular Function: peptidase activity; protein binding; zinc ion binding; metalloendopeptidase activity; unfolded protein binding; ATP binding

Biological Process: mitochondrion organization and biogenesis; nervous system development; proteolysis; anterograde axon cargo transport

Disease: Spastic Paraplegia 7, Autosomal Recessive