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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
CASR - Calcium Sensing Receptor
Alias:
CAR
FHH
FIH
HHC
EIG8
HHC1
NSHPT
PCAR1
hCasR
GPRC2A
HYPOC1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种感知循环钙浓度小变化的血浆膜G蛋白偶联受体。编码的蛋白质将这些信息传递给调节甲状旁腺激素分泌或肾脏阳离子处理的细胞内信号通路,因此该蛋白质在维持矿物离子内环境稳定中起重要作用。这个基因的突变是导致家族性低钙尿性高钙血症、新生儿严重甲状旁腺功能亢进和常染色体显性低钙血症的原因。[RefSeq,2017年8月提供]
Related ID:
NCBI:846
ENSEMBL:ENSG00000036828
HGNC:1514
UNIPROT:P41180
OMIM:601199
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
846
6
7
107962 bp
120.67
2300
6
16
64
CASR Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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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
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Interactions
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Type
Name
MGI
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Mutations
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Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
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IF
No Data Found!
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