Sequence in raw or FASTA format:
PHEX phosphate regulating endopeptidase homolog, X-linked [Homo sapiens (human)]
|Entrez Gene ID||5251|
|Full Name||phosphate regulating endopeptidase homolog, X-linked|
|Synonyms||HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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].|
Hypophosphatemic rickets, X-linked dominant, 307800 (3)
|Homo sapiens (human)||PHEX||NP_000435.3|
|Pan troglodytes (chimpanzee)||PHEX||XP_003317428.1|
|Macaca mulatta (Rhesus monkey)||PHEX||XP_001087261.1|
|Canis lupus familiaris (dog)||PHEX||XP_005641253.1|
|Bos taurus (cattle)||PHEX||NP_001179800.2|
|Mus musculus (house mouse)||Phex||NP_035207.1|
|Rattus norvegicus (Norway rat)||Phex||NP_037136.1|
|Gallus gallus (chicken)||PHEX||NP_001186206.1|
|Danio rerio (zebrafish)||phex||NP_001082818.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||phex||XP_004911718.1|
|GO:0001501||skeletal system development||TAS|
|GO:0006464||cellular protein modification process||TAS|
|GO:0019637||organophosphate metabolic process||IEA|
|GO:0005887||integral component of plasma membrane||TAS|
|GO:0048471||perinuclear region of cytoplasm||IEA|
|GO:0008270||zinc ion binding||TAS|
|UniProt||P78562, B4DWG8, F5GXU4, B4DNS0|
What is the normal function of the PHEX gene?
The PHEX gene provides instructions for making an enzyme that is active primarily in bones and teeth. Studies suggest that it cuts (cleaves) other proteins into smaller pieces; however, the proteins cleaved by the PHEX enzyme have not been identified.
The PHEX enzyme could be involved in regulating the balance of phosphate in the body. Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The kidneys normally excrete excess phosphate in urine, and they reabsorb this mineral into the bloodstream when more is needed.
Studies suggest that the PHEX enzyme may be involved in the regulation of a protein called fibroblast growth factor 23 (which is produced from the FGF23 gene). This protein normally inhibits the kidneys' ability to reabsorb phosphate into the bloodstream. Although the PHEX enzyme is thought to have some effect on the activity of fibroblast growth factor 23, no direct link has been established. It remains unclear how the PHEX enzyme helps control phosphate reabsorption and what role it plays in the formation and growth of bones.
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