SPG7
Gene Information
- Official Symbol: SPG7
- Official Name: SPG7 matrix AAA peptidase subunit, paraplegin
- Aliases and Previous Symbols: N/A
- Entrez ID: 6687
- UniProt: Q9UQ90
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: 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). {ECO:0000269|PubMed:26387735, ECO:0000305}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 6633
- Expression level (log2 read counts): 6.82