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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
Col4a3 - collagen, type IV, alpha 3
Alias:
[a]3(IV)
alpha3(IV)
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能激活整合素结合活性。预测是细胞外基质结构成分。参与细胞表面受体信号通路;肾小球基底膜发育;以及负调控血管生成。在胶原激活的酪氨酸激酶受体信号通路中上游发挥作用。位于基底膜。是胶原类型IV三聚体的一部分。在多个结构中表达,包括心血管系统;眼睛;前肠;生殖泌尿系统;和气管。用于研究常染色体隐性Alport综合征。这个基因的人类同源物与Alport综合征;常染色体显性Alport综合征;常染色体隐性Alport综合征;良性家族性血尿;和终末期肾病有关。与人类的COL4A3(胶原类型IVα3链)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:12828
ENSEMBL:ENSMUSG00000079465
UNIPROT:Q9QZS0
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12828
2
52
135132 bp
161.73
11
8
Col4a3 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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