Full name: SPG7 matrix AAA peptidase subunit, paraplegin

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CAR; CMAR; PGN; SPG5C

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]

Expression: Ubiquitous expression in thyroid (RPKM 11.5), skin (RPKM 10.1) and 25 other tissues

Gene size: 49381bp

Exon count: 22