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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
ADCY6 - Adenylate Cyclase 6
Alias:
AC6
LCCS8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码腺苷酸环化酶家族的一员,该家族成员是环状AMP合成所必需的。这个家族的所有成员都有一个细胞内的N-末端,一个由细胞质环分隔的六个跨膜结构域的串联重复,以及一个C-末端细胞质结构域。两个细胞质区域结合ATP并形成蛋白质的催化核心。腺苷酸环化酶是跨膜信号通路的重要效应子,并受到G蛋白偶联受体信号活性的调节。这个蛋白质属于腺苷酸环化酶蛋白质的小亚类,这些蛋白质在功能上有关联,并受到蛋白激酶A、钙离子和一氧化氮的抑制。这个基因的突变与多发性先天性关节挛缩症有关。[由RefSeq,2015年5月提供]
Related ID:
NCBI:112
ENSEMBL:ENSG00000174233
HGNC:237
UNIPROT:O43306
OMIM:600294
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
112
10
22
23781 bp
130.62
96
2
9
13
ADCY6 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
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Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
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References Literature
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