Phex - phosphate regulating endopeptidase homolog, X-linked Gene
Also Known as Gy; Hyp; PEX; HPDR; HPDR1
Species: Mus musculus
Summary
Predicted to enable metalloendopeptidase activity. Acts upstream of or within bone mineralization; odontogenesis; and organophosphate metabolic process. Located in Golgi apparatus; endoplasmic reticulum; and perinuclear region of cytoplasm. Is expressed in several structures, including chondrocranium; epidermis; limb; liver; and tooth. Used to study X-linked dominant hypophosphatemic rickets and otitis media. Human ortholog(s) of this gene implicated in X-linked dominant hypophosphatemic rickets. Orthologous to human PHEX (phosphate regulating endopeptidase homolog X-linked). [provided by Alliance of Genome Resources, Apr 2022]
Phex Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_011077.2 | NP_035207.1 | phosphate-regulating neutral endopeptidase PHEX |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within bone mineralization |
IMP
IMP: Inferred from mutant phenotype
|
15843468 | MGI |
| acts upstream of or within odontogenesis |
IMP
IMP: Inferred from mutant phenotype
|
23174213 | MGI |
| acts upstream of or within organophosphate metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
15843468 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
11811562 | MGI |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
11811562 | MGI |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
11811562 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
phosphate-regulating neutral endopeptidase PHEX |
|
|