PHEX
PHEX (phosphate regulating endopeptidase X-linked, also known as PEX, HYP, HPDR1 or XLH) is a transmembrane zinc-dependent endopeptidase of the M13 family. It cleaves SIBLING-derived ASARM peptides and so influences bone and dentin mineralization and renal phosphate handling. Browse Assay Genie's current range of PHEX research reagents below, or read on for the biology behind the target.
PHEX is a peptidase that cleaves ASARM peptides derived from SIBLING proteins (small integrin-binding ligand, N-linked glycoproteins), thereby regulating their biological activity. It cleaves these peptides between a serine and a glutamate or aspartate residue. Through cleavage of the MEPE-derived ASARM peptide, PHEX regulates osteogenic cell differentiation and bone mineralization. By cleaving DMP1- and MEPE-derived ASARM peptides, it also promotes dentin mineralization and renal phosphate reabsorption. In addition, PHEX inhibits the cleavage of MEPE by cathepsin B (CTSB), which prevents MEPE degradation.
The PHEX gene encodes a type II integral membrane, zinc-dependent endopeptidase that localises to the cell membrane. It belongs to the peptidase M13 family and is classified by HGNC in the M13 metallopeptidases gene group. Alternative splicing of the gene produces multiple transcript variants. The mouse ortholog is Phex.
The gene's earlier name, phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets), reflects its disease association. Mutations in PHEX cause X-linked hypophosphatemic rickets, which explains the aliases XLH, HYP and HPDR. Researchers studying mineral metabolism use the PHEX protein to examine how peptide processing at the cell surface links bone, teeth and the kidney.
PHEX cleaves the MEPE-derived ASARM peptide and regulates osteogenic cell differentiation and bone mineralization.
PHEX promotes dentin mineralization by cleaving DMP1- and MEPE-derived ASARM peptides.
PHEX is thought to be involved in renal phosphate reabsorption, a process central to phosphate homeostasis.
Mutations in PHEX cause X-linked hypophosphatemic rickets, making it a key gene in studies of this disorder.
PHEX is a membrane-bound peptidase that cleaves SIBLING-derived ASARM peptides between Ser and Glu or Asp residues. This regulates bone and dentin mineralization and renal phosphate reabsorption. It also inhibits cathepsin B-mediated cleavage of MEPE, preventing MEPE degradation.
Aliases include PEX, HPDR1, HYP1, XLH, HYP and HPDR. Earlier names include phosphate regulating endopeptidase homolog, X-linked. UniProt lists the protein as phosphate-regulating neutral endopeptidase PHEX. Alternative splicing gives multiple transcript variants.
Mutations in the PHEX gene cause X-linked hypophosphatemic rickets, according to NCBI Gene. The mouse ortholog is Phex, so researchers can study this function in mouse models. Check the datasheet of any product for its validated reactivity.
Substrates and interacting proteins in bone and dentin mineralization, including MEPE, DMP1 and cathepsin B.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P78562; product specifications from Assay Genie datasheets.