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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
GRIN2C - Glutamate Ionotropic Receptor NMDA Type Subunit 2C
Alias:
NR2C
GluN2C
NMDAR2C
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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N-甲基-D-天门冬氨酸(NMDA)受体的一个亚基,NMDA受体是谷氨酸受体的一种亚型。NMDA受体存在于中枢神经系统中,对阳离子具有通透性,并在学习、记忆和突触发育等生理过程中发挥重要作用。该受体是由不同亚基组成的四聚体(通常是亚基1与亚基2A-D中的一个或多个亚基的异源二聚体),形成一个对钙、钾和钠具有通透性的通道,其性质由亚基组成决定。受体亚基组成的改变与帕金森病、阿尔茨海默病、抑郁症和精神分裂症等病理生理状况相关。可选剪接导致多个转录变异体。[RefSeq,2013年6月提供]
Related ID:
NCBI:2905
ENSEMBL:ENSG00000161509
HGNC:4587
UNIPROT:Q14957
OMIM:138254
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2905
9
13
19510 bp
134.21
57
--
11
9
GRIN2C Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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