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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
Col7a1 - collagen, type VII, alpha 1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有相同的蛋白质结合活性。预测在细胞粘附和肽酶活性的负调控中起到上游作用或位于细胞内。位于基底膜中。在成熟的肾小囊的肾小球基底膜、色素性视网膜上皮细胞、皮肤和表面外胚层中表达。用于研究隐性营养不良性大疱性表皮松解症。这个基因的人类同源物与大疱性表皮松解症(多种)和无综合征先天性指甲障碍8有关。与人类COL7A1(胶原蛋白VII型α1链)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:12836
ENSEMBL:ENSMUSG00000025650
UNIPROT:Q63870
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12836
1
119
31290 bp
295.23
14
6
Col7a1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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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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References Literature
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