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中文人类
PTH1R - Parathyroid Hormone 1 Receptor
Alias:
PFE
EKNS
PTHR
PTHR1
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这个基因编码的蛋白质是G-蛋白偶联受体家族2的成员。这个蛋白质是甲状旁腺激素（PTH）和甲状旁腺激素样激素（PTHLH）的受体。这个受体的活性是通过激活腺苷酸环化酶和磷脂酰肌醇-钙第二信使系统来介导的。这个受体缺陷已被证明是詹森氏骨干发育不良（JMC）、Blomstrand型软骨发育不良（BOCD）和enchodromatosis的原因。这个基因的两个编码相同蛋白质的转录变异体已经被发现。[RefSeq,2010年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PTH1R 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
