$VAR1 = undef;
Summary for peptidase M13.091: PHEX peptidase
| Names | |
|---|---|
| MEROPS Name | PHEX peptidase |
| Other names | Per g.p. (Mus musculus), PEX [obs.] g.p. (Homo sapiens), PHEX g.p. (Homo sapiens), phosphate-regulating gene with homologies to endopeptidase on the X chromosome |
| Domain architecture |
|---|
| MEROPS Classification | |
|---|---|
| Classification | Clan MA >> Subclan MA(E) >> Family M13 >> Subfamily (none) >> M13.091 |
| Holotype | PHEX peptidase (Homo sapiens), Uniprot accession P78562 (peptidase unit: 49-749), MERNUM MER0002062 |
| History | Identifier created: MEROPS 3.02 (25 June 1998) |
| Activity | |||
|---|---|---|---|
| Catalytic type | Metallo | ||
| Peplist | Included in the Peplist with identifier PL00205 | ||
| NC-IUBMB | Not yet included in IUBMB recommendations. | ||
| Proteolytic events | CutDB database (1 cleavage) | ||
| Activity status | human: active (Boileau, 2004) mouse: active (Guo et al., 2001) | ||
| Knockout | Mutations in the gene lead to X-linked hypophosphatemic rickets in humans and other mammals (Sabbagh et al., 2000). | ||
| Other databases | TREEFAM | http://www.treefam.org/family/TF315192 | |
| Cleavage site specificity | Explanations of how to interpret the following cleavage site sequence logo and specificity matrix can be found here. | ||
| Cleavage pattern | s/-/s/s DE/s/-/d (based on 54 cleavages) | ||
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| Specificity matrix | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Human genetics | ||||||
|---|---|---|---|---|---|---|
| Gene symbol | Locus | Megabases | Ensembl | Entrez gene | Gene Cards | OMIM |
| PHEX | Xp22.2-p22.1 | ENSG00000102174 | 5251 | PHEX | 307800 | |
| Mouse genetics | ||||||
| Gene symbol | Position | Megabases | Ensembl | Entrez gene | MGI | |
| Phex | X:65.4 | ENSMUSG00000025663 | 18675 | MGI:107489 | ||


