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中文人类
GUCY2D - Guanylate Cyclase 2D, Retinal
Alias:
LCA
CACD
CG-E
CYGD
LCA1
RCD2
CACD1
CORD5
CORD6
GUC2D
ROSGC
retGC
CSNB1I
GUC1A4
RETGC-1
ROS-GC1
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这个基因编码一种视网膜特异性的鸟苷酸环化酶，属于膜鸟苷酸环化酶家族。与其他膜鸟苷酸环化酶一样，这种酶具有一个疏水性的氨基端信号序列，后面是一个大型细胞外结构域，一个单跨膜结构域，一个激酶同源结构域，以及一个鸟苷酸环化酶催化结构域。与其他膜鸟苷酸环化酶不同，这种酶不受钠尿肽的激活。这个基因的突变导致Leber先天性夜盲症和圆锥形-杆状营养不良-6疾病。[由RefSeq提供，2008年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GUCY2D 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
