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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
PDE1C - Phosphodiesterase 1C
Alias:
Hcam3
DFNA74
hCam-3
cam-PDE 1C
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种属于3'5'-环核苷酸磷酸二酯酶家族的酶。这个家族的成员催化环核苷酸,即环腺苷酸和环鸟苷酸的水解,转化为相应的核苷5'-单磷酸。这个基因编码的酶调节血管平滑肌细胞的增殖和迁移,以及内膜增生。这个酶还通过调节生长因子受体的稳定性,如PDGF-受体-beta,在病理血管重塑中发挥作用。[RefSeq,2016年7月提供]
Related ID:
NCBI:5137
ENSEMBL:ENSG00000154678
HGNC:8776
UNIPROT:Q14123
OMIM:602987
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5137
21
18
811448 bp
80.76
101
2
5
5
PDE1C 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
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* 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
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No data available
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Status
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Link
No data available
References Literature
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No Data Found!
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