PHEX Gene Summary [Human]
The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Details
| Type | Protein Coding |
| Official Symbol | PHEX |
| Official Name | phosphate regulating endopeptidase homolog X-linked [Source:HGNC Symbol;Acc:HGNC:8918] |
| Ensembl ID | ENSG00000102174 |
| Bio databases IDs | |
| Aliases | phosphate regulating endopeptidase homolog X-linked |
| Synonyms | Gy, HPDR, HPDR1, HYP, HYP1, LXHR, PEX, phosphate regulating endopeptidase homolog, X-linked, phosphate regulating endopeptidase X-linked, Phosp. reg. gene homol. to endopep. on the X chrom, XLH |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PHEX often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc ion binding
- peptidase
- protein binding
- peptidase GluZincin family
- Peptidase family M13
- metalloendopeptidase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- X-linked dominant hypophosphatemic rickets
- hypophosphatemic rickets
- osteomalacia
- hypophosphatemia
- rickets
- organismal death
- autosomal dominant hypophosphatemic rickets
- thyroid carcinoma
- epithelial thyroid cancer
- hyperphosphatemia
role in cell
- expression in
- morphology
- mineralization
- regulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- intracellular membrane-bounded organelle
- perinuclear region
- cellular membrane
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHEX gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein modification process
- organophosphate metabolic process
- bone mineralization
- cell-cell signaling
- response to growth hormone stimulus
- odontogenesis
- bone development
- skeletal system development
- cellular response to parathyroid hormone stimulus
- proteolysis
- protein processing
- cellular response to vitamin D
- lung development
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- Golgi apparatus
- endoplasmic reticulum
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- metalloendopeptidase activity