paraplegin; spastic paraplegia 7 protein (SPG7, CAR, CMAR, PGN)

Function

• putative ATP-dependent protease

Structure

• in the N-terminal section; belongs to the AAA ATPase family
• M41 family
• in the C-terminal section; belongs to the peptidase family

Compartment

• mitochondrial membrane; multi-pass membrane protein

Alternative splicing

• named isoforms=2

Expression

• ubiquitous

Pathology

• defects in SPG7 are the cause of autosomal recessive spastic paraplegia 7

Notes

• a CDS in the 3'-UTR of SPG7 mRNA had been erroneously identified as a cell matrix adhesion regulator (CMAR) & originally thought to be encoded by the CMAR gene
• there is no experimental evidence for the production of endogenous CMAR protein

More general terms

• mitochondrial membrane protein
• metalloprotease

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6687
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6687
• OMIM: https://mirror.omim.org/entry/602783
• OMIM: https://mirror.omim.org/entry/607259
• UniProt: http://www.uniprot.org/uniprot/Q9UQ90.html