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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
PDE8A - Phosphodiesterase 8A
Alias:
HsT19550
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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属于环核苷酸磷酸二酯酶(PDE)家族,以及PDE8亚家族。这个PDE水解第二信使,cAMP,cAMP是一种调节剂,并介导许多细胞对细胞外信号的响应。因此,通过调节cAMP的细胞浓度,这个蛋白质在许多重要的生理过程中扮演关键角色。已经发现这个基因有不同的剪接转录变异体,它们编码不同的异构体。[由RefSeq,2011年7月提供]
Related ID:
NCBI:5151
ENSEMBL:ENSG00000073417
HGNC:8793
UNIPROT:O60658
OMIM:602972
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5151
11
22
158676 bp
93.30
37
--
6
13
PDE8A 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
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
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Status
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Link
No data available
References Literature
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