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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu20451 NM_001282754 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu21896 NM_000444 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu20451C NM_001282754 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 2, mRNA. Customized vector On-demand 12-14 $329.00
OHu21896C NM_000444 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00

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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?

Interactant

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