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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
小鼠
Glrb - glycine receptor, beta subunit
Alias:
spa
Glyrb
spastic
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码甘氨酸受体的β亚基,该五聚体由α和β亚基组成。受体作为神经递质门控离子通道发挥作用,通过结合甘氨酸到受体上,增加氯离子传导而产生超极化作用。这个基因在新生儿和成年小鼠的中枢神经系统中广泛转录。在人类中,这个基因的突变导致惊跳病,也称为遗传性惊厥症或先天性僵硬人综合症,这是一种以肌肉僵硬为特征的疾病。可变剪接导致多个转录变异体。[由RefSeq,2016年9月提供]
Related ID:
NCBI:14658
ENSEMBL:ENSMUSG00000028020
UNIPROT:P48168
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14658
21
11
70090 bp
55.95
6
10
Glrb Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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