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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SPG7-20-RE | 20 (40 μL) | 200 μL |  |
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| SPG7-20-OR | 20 (40 μL) | 200 μL |  |
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| SPG7-20-GO | 20 (40 μL) | 200 μL |  |
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| SPG7-20-GR | 20 (40 μL) | 200 μL |  |
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| SPG7-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SPG7
Gene Name : SPG7, paraplegin matrix AAA peptidase subunit
Chromosome : CHR 16: 895,083,78-895,577,67
Locus : 16q24.3
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