Symbol
Name
ID
|
Phex
phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
MGI:107489
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Nomenclature History
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Synonyms
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HPDR1
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Genetic Map
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Sequence Map
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Mammalian
homology
|
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Sequences
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All sequences(30)
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Alleles
and
phenotypes
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All alleles(7) :
Targeted, knock-out(1)
Targeted, other(1)
Spontaneous(3)
Chemically induced(2)
| Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms. |
Associated Human Diseases (2)
Alleles Annotated to Human Diseases (3)
Phenotype Images (10)
|
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Polymorphisms
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RFLP(2)
SNPs within 2kb(709 from dbSNP Build 128)
SNPs within 2kb including multiple locations(713)
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Gene Ontology
(GO)
classifications
|
|
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Expression
|
Literature Summary: (6 records)
Data Summary:
Assays (1)
Results (2)
Tissues (1)
Theiler Stages: 22
| |
Assay Type |
Assays |
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Results |
| |
RT-PCR |
1 |
|
2 |
cDNA source data(40)
External Resources:
Allen Brain Atlas
GEO
|
Molecular
reagents
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All nucleic(51)
Genomic(8)
cDNA(42)
Primer pair(1)
Microarray probesets(3)
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Other database
links
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Protein
domains
|
| InterPro ID |
Description |
| IPR000718 |
Peptidase M13, neprilysin |
| IPR006025 |
Peptidase M, neutral zinc metallopeptidases, zinc-binding site |
| IPR008753 |
Peptidase M13 |
| IPR015603 |
Phosphate Regulating Neutral Endopeptidase |
| IPR018497 |
Peptidase M13, neprilysin, C-terminal |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:28887
Carter TC et al.,
"The genetic sensitivity to X-rays of mouse foetal gonads"
Genet Res 1960;1():351-5
(Latest)
J:153409
Addison WN et al.,
"MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM."
J Bone Miner Res 2008 Oct;23(10):1638-49
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All references(133)
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Other
accession IDs
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MGD-MRK-10343, MGD-MRK-11040, MGD-MRK-36057
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