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SPG7 encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Additionally we are shipping SPG7 Antibodies (89) and many more products for this protein.
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Compound heterozygous variants in SPG7 identified in 22 French Canadian patients with spastic ataxia.
CACNA1A and SPG7 are major ataxia genes.
The results of this study showed that the most frequently detected variant in this cohort was the SPG7 p.Leu78.
A Norwegian founder mutation p.H701P is a major cause of SPG7 in Norway.
a novel homozygous frameshift deletion in the SPG7 gene was identifies as the genetic cause of hereditary spastic paraplegia in a Greek family.
this case shows that the spectrum of pathologies in SPG7 can include neuron loss of the dentate nucleus and the inferior olivary nucleus as well as neuritic pathology.
Data indicates that SPG7 is essential for the mitochondrial permeability transition pore (PTP) complex formation, interacts with CypD and VDAC and determines C terminus of SPG7 and CsA-binding region of CypD as necessary for PTP formation.
In unexplained ataxia, there was a significant number of patients with SPG7 mutations.
The SPG7 Q866 variant is efficiently processed independent of phosphorylation of AFG3L2 (show AFG3L2 Proteins) at Y179, which inhibits processing of SPG7.
Using an unbiased exome sequencing approach we identified pathogenic compound heterozygous SPG7 mutations in patients with PEO (show POLG Proteins) and multiple mitochondrial DNA deletions in skeletal muscle
Studies indicate that both mouse and human SPG7 ESTs containing alternative first exons.
These results provide evidence for different substrate specificities of m-AAA (show AAAS Proteins) proteases and reveal a striking evolutionary switch of proteases involved in the proteolytic processing of dynamin (show DNM1 Proteins)-like GTPases in mitochondria.
Data show that Afg3l1 or Afg3l2 are required for maturation of newly imported paraplegin subunits after their cleavage by MPP.
Spg7 and Afg3l2 (show AFG3L2 Proteins) double mutants show an early-onset ataxic phenotype, indicating a role of the m-AAA (show AAAS Proteins) proteases in cerebellar degeneration.
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.
, spastic paraplegia 7
, spastic paraplegia 7 homolog
, spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive)
, cell adhesion regulator
, cell matrix adhesion regulator
, spastic paraplegia 7 protein