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中文人类
CHRNG - Cholinergic Receptor Nicotinic Gamma Subunit
Alias:
ACHRG
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哺乳动物肌肉型乙酰胆碱受体是一种跨膜五聚糖蛋白，具有两个α亚基，一个β，一个δ，和一个ε（在成年骨骼肌中）或γ（在胎儿和脱神经肌肉中）亚基。这个基因编码γ亚基，在人类妊娠第33周之前表达。乙酰胆碱受体的γ亚基在神经肌肉器官发生和配体结合中发挥作用，γ亚基表达的破坏会阻止受体在细胞膜中的正确定位。这个基因的突变导致埃斯科巴综合征和多种翼状胬肉综合征的致命形式。肌肉型乙酰胆碱受体是自身免疫性疾病重症肌无力的主要抗原。[RefSeq，2009年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CHRNG 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
