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中文人类
PDE6B - Phosphodiesterase 6B
Alias:
rd1
PDEB
RP40
CSNB3
CSNBAD2
GMP-PDEbeta
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光子吸收触发棒状光感受器中的信号级联，激活cGMP磷酸二酯酶（PDE），导致cGMP的快速水解，cGMP门控阳离子通道的关闭和细胞的超极化。PDE是一种由alpha、beta和gamma亚基组成的外周膜异源三聚酶。这个基因编码beta亚基。这个基因的突变导致视网膜色素变性症和常染色体显性先天性静止性夜盲。已经发现这个基因有不同的转录变体，编码不同的异构体。[RefSeq，2009年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PDE6B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
