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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
Gphn - gephyrin
Alias:
GPH
geph
GPHRYN
C230040D23
5730552E08Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能激活几个功能,包括钼辅酶腺苷酸转移酶活性;钼辅酶结合活性;和钼辅酶钼转移酶活性。参与神经递质受体定位到突触后特化膜。在钼辅因子生物合成过程的上游或内部起作用;突触后神经递质受体扩散捕获;和突触组织。位于几个细胞组件中,包括抑制性突触;神经元细胞体;和突触后特化。是突触膜的固定成分。在GABA能突触中活跃。在几个结构中表达,包括中枢神经系统和视网膜。这个基因的人类正测同系物涉及遗传性代谢紊乱和钼辅因子缺乏症C型。与人类GPHN(gephyrin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:268566
ENSEMBL:ENSMUSG00000047454
UNIPROT:Q8BUV3
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
268566
29
23
467448 bp
83.28
6
11
Gphn Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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