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中文人类
CHRND - Cholinergic Receptor Nicotinic Delta Subunit
Alias:
ACHRD
CMS2A
CMS3A
CMS3B
CMS3C
FCCMS
SCCMS
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肌肉的乙酰胆碱受体有5个不同类型的4个子单位：2个α子单位和1个β、γ和δ子单位。乙酰胆碱结合后，受体发生广泛的结构变化，影响所有子单位，导致穿过质膜的离子通道开放。这个基因的缺陷是多发性翼状胬肉综合征致死型（MUPSL）、先天性肌无力综合征慢通道型（SCCMS）和先天性肌无力综合征快通道型（FCCMS）的病因。已发现这个基因的几种转录变异体编码不同的异构体。[RefSeq,2015年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CHRND 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
