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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
PDE6H - Phosphodiesterase 6H
Alias:
RCD3
ACHM6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码锥状细胞特异性的cGMP磷酸二酯酶的抑制(或γ)亚基,这是一个由两个催化链(α和β)和两个抑制链(γ)组成的四聚体。它特异性地在视网膜中表达,并参与视觉信号的传播和放大。这个基因的突变与视网膜锥状细胞营养不良3A型(RCD3A)有关。[RefSeq,2010年3月提供]
Related ID:
NCBI:5149
ENSEMBL:ENSG00000139053
HGNC:8790
UNIPROT:Q13956
OMIM:601190
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5149
1
4
8824 bp
9.07
62
2
3
3
PDE6H Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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