$VAR1 = undef;

Summary for peptidase M41.006: paraplegin

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates

 

Names
MEROPS Nameparaplegin
Other namesspastic paraplegia gene 7, SPG7 g.p. (Homo sapiens)
Domain architecture
MEROPS Classification
Classification Clan MA >> Subclan MA(D) >> Family M41 >> Subfamily (none) >> M41.006
Holotypeparaplegin (Homo sapiens), Uniprot accession Q9UQ90 (peptidase unit: 522-795), MERNUM MER0004454
History Identifier created: MEROPS 3.03 (10 September 1998)
Activity
Catalytic typeMetallo
NC-IUBMBNot yet included in IUBMB recommendations.
Activity statushuman: putative
mouse: putative
KnockoutMutation of the human gene is responsible for an autosomal recessive form of hereditary spastic paraplegia (Pearce et al., 1999).
Pharmaceutical relevanceWork with mice has indicated that gene transfer may be an effective therapeutic option for patients with paraplegin deficiency (Pirozzi et al., 2005).
Other databases TREEFAMhttp://www.treefam.org/family/TF105003
Human genetics
Gene symbol Locus Megabases Ensembl Entrez gene Gene Cards OMIM
SPG7 16q24.3 ENSG00000141018 6687 SPG7 607259
Mouse genetics
Gene symbol Position Megabases Ensembl Entrez gene MGI
Spg7 8:E1 ENSMUSG00000000738 234847 MGI:2385906