Aliases for SPG7 Gene
External Ids for SPG7 Gene
Previous HGNC Symbols for SPG7 Gene
Previous GeneCards Identifiers 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 (SPG7 Matrix AAA Peptidase Subunit, Paraplegin) is a Protein Coding gene. Diseases associated with SPG7 include Spastic Paraplegia 7, Autosomal Recessive and Hereditary Spastic Paraplegia. Gene Ontology (GO) annotations related to this gene include ATPase activity and metalloendopeptidase activity. An important paralog of this gene is AFG3L2.
UniProtKB/Swiss-Prot Summary for SPG7 Gene
ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735).