SPG7

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolSPG7
NameSPG7 matrix AAA peptidase subunit, paraplegin
Typeprotein-coding
Sourcemygene

Summary

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].

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This is an externally resolved entity

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