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PHEX phosphate regulating endopeptidase homolog, X-linked [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000444 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
NM_001282754 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol PHEX
Entrez Gene ID 5251
Full Name phosphate regulating endopeptidase homolog, X-linked
Synonyms HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
General protein information
Preferred Names
phosphate-regulating neutral endopeptidase
Names
phosphate-regulating neutral endopeptidase
metalloendopeptidase homolog PEX
X-linked hypophosphatemia protein
vitamin D-resistant hypophosphatemic rickets protein
phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp22.2-p22.1

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].
Disorder

MIM: 300550

Hypophosphatemic rickets, X-linked dominant, 307800 (3)

mRNA Protein Product Sequence Price Select
NM_000444, 544346320 NP_000435, 90403592 phosphate-regulating neutral endopeptidase isoform 1 ORF Sequence $490.00
NM_001282754, 544346321 NP_001269683, 544346322 phosphate-regulating neutral endopeptidase isoform 2 ORF Sequence $700.00
Homo sapiens (human)PHEXNP_000435.3
Pan troglodytes (chimpanzee)PHEXXP_003317428.1
Macaca mulatta (Rhesus monkey)PHEXXP_001087261.1
Canis lupus familiaris (dog)PHEXXP_005641253.1
Bos taurus (cattle)PHEXNP_001179800.2
Mus musculus (house mouse)PhexNP_035207.1
Rattus norvegicus (Norway rat)PhexNP_037136.1
Gallus gallus (chicken)PHEXNP_001186206.1
Danio rerio (zebrafish)phexNP_001082818.1
Xenopus (Silurana) tropicalis (western clawed frog)phexXP_004911718.1
Process
IDNameEvidence
GO:0001501skeletal system developmentTAS
GO:0006464cellular protein modification processTAS
GO:0006508proteolysisIDA
GO:0007267cell-cell signalingTAS
GO:0019637organophosphate metabolic processIEA
GO:0030282bone mineralizationIEA
Component
IDNameEvidence
GO:0005783endoplasmic reticulumIEA
GO:0005794Golgi apparatusIEA
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneTAS
GO:0048471perinuclear region of cytoplasmIEA
Function
IDNameEvidence
GO:0004177aminopeptidase activityIEA
GO:0004222metalloendopeptidase activityIEA
GO:0008270zinc ion bindingTAS
GeneCards PHEX
UniProt P78562, B4DWG8, F5GXU4, B4DNS0
MIM 300550
Ensembl ENSG00000102174
HGNC 8918
HPRD 02387

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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