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中文人类
PHEX - Phosphate Regulating Endopeptidase X-linked
Alias:
HYP
PEX
XLH
HPDR
HYP1
LXHR
HPDR1
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这个基因编码的蛋白质是一种跨膜内肽酶，属于II型整合膜锌依赖性内肽酶家族。该蛋白质被认为与骨和牙质矿化以及肾磷酸盐重吸收有关。这个基因的突变导致X连锁低磷血症性佝偻病。可变剪接产生了多种转录子变异体。[由RefSeq，2013年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PHEX Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
