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Paraplegin / SPG7
spastic paraplegia 7 (pure and complicated autosomal recessive)
Paraplegin / SPG7 is 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.
| Gene Name: | spastic paraplegia 7 (pure and complicated autosomal recessive) |
| Family/Subfamily: | Protease , Metallopeptidase M41 |
| Synonyms: | SPG7, Cell adhesion regulator, Cell matrix adhesion regulator, Paraplegin, PGN, SPG5C, Spastic paraplegia 7 protein, CAR, CMAR |
| Target Sequences: | NM_003119 NP_003110.1 Q9UQ90 |
Publications (1)
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