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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
Otof - otoferlin
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活AP-2适配器复合物结合活性及钙离子结合活性。参与突触囊泡的启动。位于内质网;前膜突触活跃区和突触囊泡膜。在大脑;桥脑被膜层;和小脑室层其余部分表达。用于研究常染色体隐性非综合征性耳聋9。该基因的人类同源物涉及常染色体隐性非综合征性耳聋9。与人类OTOF(otoferlin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:83762
ENSEMBL:ENSMUSG00000062372
UNIPROT:Q9ESF1
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
83762
10
47
95664 bp
227.03
16
11
Otof Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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MGI
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