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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
PTH - Parathyroid Hormone
Alias:
FIH1
PTH1
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码甲状旁腺家族蛋白质的一员。编码的前原蛋白在蛋白水解过程中被加工成一种与甲状旁腺激素/甲状旁腺激素相关肽受体结合的蛋白质,并调节血钙和磷酸盐水平。编码蛋白质的过量产生,称为甲状旁腺功能亢进,可能导致高钙血症和肾结石。另一方面,编码蛋白质的加工缺陷可能导致甲状旁腺功能减退,从而导致低钙血症和麻木。可选剪接产生多种转录变异体。[RefSeq,2015年10月提供]
Related ID:
NCBI:5741
ENSEMBL:ENSG00000152266
HGNC:9606
UNIPROT:P01270
OMIM:168450
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5741
2
3
4128 bp
12.86
36
3
4
21
PTH Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
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Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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