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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
PDE1A - Phosphodiesterase 1A
Alias:
HCAM1
HCAM-1
HSPDE1A
CAM-PDE 1A
CAM-PDE-1A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
环核苷酸磷酸二酯酶(PDEs)通过将cAMP和/或cGMP水解为其相应的核苷5'-单磷酸,在信号传导中扮演角色,从而调节细胞内环核苷酸浓度。PDE1家族的成员,如PDE1A,是Ca(2+)/钙调素(参见CALM1;MIM 114180)依赖的PDEs(CaM-PDEs),在Ca(2+)存在下被钙调素激活(Michibata等人,2001年[PubMed 11342109];Fidock等人,2002年[PubMed 11747989])。[由OMIM于2009年10月提供]
Related ID:
NCBI:5136
ENSEMBL:ENSG00000115252
HGNC:8774
UNIPROT:P54750
OMIM:171890
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5136
24
15
576757 bp
61.25
45
--
8
7
PDE1A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Name
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References Literature
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