Phosphate-Regulating Neutral Endopeptidase PHEX

Preferred Label : Phosphate-Regulating Neutral Endopeptidase PHEX;

NCIt synonyms : X-Linked Hypophosphatemia Protein; EC 3.4.24.-; Vitamin D-Resistant Hypophosphatemic Rickets Protein; Metalloendopeptidase Homolog PEX; HYP; PHEX;

NCIt definition : Phosphate-regulating neutral endopeptidase PHEX (749 aa, 86 kDa) is encoded by the human PHEX gene. This protein plays a role in the cleavage of biologically active small integrin-binding ligand, N-linked glycoprotein (SIBLING)-derived acidic-serine-aspartate-rich-MEPE-associated (ASARM) motif peptides.;

Details

Origin ID

C204480;

UMLS CUI

C1664203;

OMIM relation
- Phosphate-regulating endopeptidase, X-linked [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- PHEX protein, human [MeSH Supplementary Concept]
- PHEX protein, human [MeSH concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- Metallopeptidase Gene [NCIt concept]
- PHEX Gene [NCIt concept]
- Peptidase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
gene_product_has_chemical_classification
- Metalloprotein [NCIt concept]
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Metal Binding Site [NCIt concept]
- Protease Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_biomarker_type
- Metastasis and Aggressiveness Marker [NCIt concept]
gene_product_plays_role_in_biological_process
- Hydrolysis [NCIt concept]
- Metal Ion Binding [NCIt concept]
- Mineralization [NCIt concept]
- Proteolytic Processing [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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