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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
Sacm1l - SAC1 suppressor of actin mutations 1-like (yeast)
Alias:
SAC1
Sac1p
mKIAA0851
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
该基因编码一种整合膜蛋白,定位在内质网,并作为磷酸肌醇磷酸酶发挥作用,水解磷酸肌醇3-磷酸,磷酸肌醇4-磷酸和磷酸肌醇3,5-二磷酸。小鼠中该基因的缺失导致植入前致死。其他研究表明,该基因也参与高尔基体膜和有丝分裂纺锤体的组织。预计通过阅读停止码重读机制,从相同的mRNA通过可选的帧内翻译终止密码子产生两种异构体。[由RefSeq,2017年12月提供]
Related ID:
NCBI:83493
ENSEMBL:ENSMUSG00000025240
UNIPROT:Q9EP69
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
83493
3
20
62848 bp
66.94
5
6
Sacm1l Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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