SPG7 Antibody – Rabbit Polyclonal

This gene encodes 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. [provided by RefSeq, Jul 2008]

Function: Putative ATP-dependent zinc metalloprotease.

Subunit structure: Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I. Ref.4

Subcellular location: Mitochondrion membrane; Multi-pass membrane protein Ref.1.

Tissue specificity: Ubiquitous.

Involvement in disease: Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7 Ref.8 Ref.9Defects 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.

Sequence similarities: In the N-terminal section; belongs to the AAA ATPase family.In the C-terminal section; belongs to the peptidase M41 family.

Caution: A CDS in the 3'-UTR of SPG7 mRNA had been erroneously identified as a cell matrix adhesion regulator and originally thought to be encoded by the CMAR gene. There is no experimental evidence for the production of endogenous CMAR protein.

Sequence caution: The sequence AAH35929.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence BC007692 differs from that shown. Reason: Erroneous termination at position 428. Translated as Glu.