| Entrez gene ID | | 6687 |
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| Official gene symbol | | SPG7 |
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| Full name | | spastic paraplegia 7 (pure and complicated autosomal recessive) |
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| Aliases | | ,CAR,CMAR,FLJ37308,MGC126331,MGC126332,PGN,SPG5C, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 16 Locus: 16q24.3 |
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| Gene position | | 89574805 - 89624174 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 49370 bp |
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| Gene sequence |
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| OMIM ID | | 602783 |
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