spastic paraplegia 7 (pure and complicated autosomal recessive)

Symbol

SPG7 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
ppgn-1 Caenorhabditis elegans
CG2658 Drosophila melanogaster
spg7 Danio rerio
Spg7 Mus musculus
Spg7 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3408 Gene expression of SPG7 increases with age Molecular skin Human SPG7 —

GO Terms

GO IDGO TermGO Category
GO:0006508 proteolysis biological_process
GO:0007005 mitochondrion organization biological_process
GO:0007399 nervous system development biological_process
GO:0008089 anterograde axon cargo transport biological_process
GO:0008219 cell death biological_process
GO:0030163 protein catabolic process biological_process
GO:0005739 mitochondrion cellular_component
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0031966 mitochondrial membrane cellular_component
GO:0000166 nucleotide binding molecular_function
GO:0004222 metalloendopeptidase activity molecular_function
GO:0005524 ATP binding molecular_function
GO:0008233 peptidase activity molecular_function
GO:0008270 zinc ion binding molecular_function
GO:0017111 nucleoside-triphosphatase activity molecular_function
GO:0046872 metal ion binding molecular_function
GO:0051082 unfolded protein binding molecular_function