SPG7, Polyclonal Antibody

CAR; PGN; CMAR; SPG5C

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Store at -20 degree C. Avoid freeze/thaw cycles.

Manufactured in an ISO 9001:2015 Certified Laboratory.

Small volumes of anti-SPG7 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Western Blot (WB)

WB: 1:200 - 1:2000

88kDa

SPG7, paraplegin matrix AAA peptidase subunit

paraplegin

Paraplegin

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

Chromosomal Location of Human Ortholog: 16q24.3

Cellular Component: mitochondrial inner membrane; mitochondrion

Molecular Function: metalloendopeptidase activity; peptidase activity; protein binding; unfolded protein binding

Biological Process: mitochondrial calcium ion transport; nervous system development

Disease: Spastic Paraplegia 7, Autosomal Recessive

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