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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
Sacs - sacsin
Alias:
DNAJC29
A230052M14
E130115J16Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有多种功能,包括Hsp70蛋白结合活性;分子伴侣结合活性;以及低密度脂蛋白颗粒受体结合活性。预测参与包涵体组装的负调控。预测位于线粒体和细胞核中。在背根神经节、面神经节、舌咽神经节、三叉神经节和迷走神经节中表达。用于研究Charlevoix-Saguenay痉挛性共济失调。此基因的人类同源物与Charlevoix-Saguenay痉挛性共济失调有关。与人类SACS(sacsin分子伴侣)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:50720
ENSEMBL:ENSMUSG00000048279
UNIPROT:Q9JLC8
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
50720
11
10
102273 bp
520.68
6
6
Sacs Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
MGI
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