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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
Ush2a - usherin
Alias:
Gm676
Gm983
Ushrn
Mush2a
A930011D15Rik
A930037M10Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有胶原结合活性;具有相同的蛋白质结合活性;具有肌球蛋白结合活性。在蛋白质定位建立的上游或内部发挥作用;神经元分化;和光感受器细胞的维护。位于几个细胞组件中,包括顶浆膜囊泡;光感受器连接纤毛;和纤毛膜。是USH2复合物和纤毛踝连接复合物的一部分。在感觉器官和睾丸中表达。用于研究Usher综合症2A。这个基因的人类同源物涉及Usher综合症(多种);非综合征性耳聋;和视网膜色素变性(多种)。与人类USH2A(usherin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:22283
ENSEMBL:ENSMUSG00000026609
UNIPROT:Q2QI47
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
22283
2
71
702660 bp
569.66
6
16
Ush2a Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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