Aliases for SPG7 Gene
External Ids for SPG7 Gene
Previous Symbols for SPG7 Gene
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]
GeneCards Summary for SPG7 Gene
SPG7 (Spastic Paraplegia 7 (Pure And Complicated Autosomal Recessive)) is a Protein Coding gene. Diseases associated with SPG7 include spastic paraplegia 7 and spastic paraplegia 7, autosomal recessive. GO annotations related to this gene include metalloendopeptidase activity and peptidase activity.
UniProtKB/Swiss-Prot for SPG7 Gene
Putative ATP-dependent zinc metalloprotease