$VAR1 = undef;
Summary for peptidase M41.006: paraplegin
| Names | |
|---|---|
| MEROPS Name | paraplegin |
| Other names | spastic paraplegia gene 7, SPG7 g.p. (Homo sapiens) |
| Domain architecture |
|---|
| MEROPS Classification | |
|---|---|
| Classification | Clan MA >> Subclan MA(D) >> Family M41 >> Subfamily (none) >> M41.006 |
| Holotype | paraplegin (Homo sapiens), Uniprot accession Q9UQ90 (peptidase unit: 522-795), MERNUM MER0004454 |
| History | Identifier created: MEROPS 3.03 (10 September 1998) |
| Activity | |||
|---|---|---|---|
| Catalytic type | Metallo | ||
| NC-IUBMB | Not yet included in IUBMB recommendations. | ||
| Activity status | human: putative mouse: putative | ||
| Knockout | Mutation of the human gene is responsible for an autosomal recessive form of hereditary spastic paraplegia (Pearce et al., 1999). | ||
| Pharmaceutical relevance | Work with mice has indicated that gene transfer may be an effective therapeutic option for patients with paraplegin deficiency (Pirozzi et al., 2005). | ||
| Other databases | TREEFAM | http://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 | ||
