DISEASES

Disease-gene associations mined from literature

Literature associating PHEX and osteomalacia

PHEX [ENSP00000368682]

Phosphate-regulating neutral endopeptidase PHEX; Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:9593714, PubMed:15664000, PubMed:18162525, PubMed:18597632). Cleaves ASARM peptides between Ser and Glu or Asp residues . Regulates osteogenic cell differentiation and bone mineralization through the cleavage of the MEPE-derived ASARM peptide . Promotes dentin mineralization and renal phosphate reabsorption by cleaving DMP1- and MEPE-derived ASARM peptides . Inhibits the cleavage of MEPE by CTSB/cathepsin B thus preventing MEPE degradation . ECO:0000269|PubMed:12220505, ECO:0000269|PubMed:18162525,

Synonyms:  PHEX,  P78562,  P78562p,  hP78562,  5251 ...

Linkouts:  STRING  Pharos  UniProt  OMIM