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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
Col4a5 - collagen, type IV, alpha 5
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测为细胞外基质结构成分。在胶原激活的酪氨酸激酶受体信号通路和神经肌肉接头发育中起上游作用。位于基底膜和神经肌肉接头处。是胶原类型IV三聚体的一部分。在包括消化系统、大脑、胚外成分、生殖系统和脊髓在内的几个结构中表达。用于研究X-连锁性Alport综合症。此基因的人类同源物与Alport综合症和X-连锁性Alport综合症有关。与人类COL4A5(胶原类型IVα5链)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:12830
ENSEMBL:ENSMUSG00000031274
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12830
5
53
213866 bp
Unknown
7
8
Col4a5 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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