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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
Colq - collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Alias:
A130034K24Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
具有预测的肝素结合活性。预测是细胞外基质结构成分。在蛋白质定位到膜的建立上游起作用;调节神经肌肉接合处的突触组装;以及骨骼肌乙酰胆碱门控通道聚类。位于神经肌肉接合处。用于研究先天性肌无力综合征5。该基因的人类同源物涉及先天性肌无力综合征5。与人类COLQ(不对称乙酰胆碱酯酶的胶原样尾亚基)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:382864
ENSEMBL:ENSMUSG00000057606
UNIPROT:O35348
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
382864
6
17
54782 bp
47.68
1
3
Colq Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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