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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
Ush1c - USH1 protein network component harmonin
Alias:
harmonin
2010016F01Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
肌球蛋白尾结合活性和谱蛋白结合活性预测。参与刷状缘组装;蛋白质定位到微绒毛;以及微绒毛长度的调节。在几个过程的上游或内部发挥作用,包括内耳发育;平行肌动蛋白丝束组装;以及声音的感觉。位于几个细胞组件中,包括刷状缘;光感受器内节;和上顶链密度。在几个结构中表达,包括消化系统;耳蜗;生殖泌尿系统;心脏;和肺上皮。用于研究Usher综合征1C和常染色体隐性非综合征性耳聋18A。该基因的人类同源物涉及Usher综合征;Usher综合征1型;Usher综合征1C;和常染色体隐性非综合征性耳聋18A。与人类USH1C(USH1蛋白网络成分harmonin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:72088
ENSEMBL:ENSMUSG00000030838
UNIPROT:Q9ES64
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
72088
6
27
43211 bp
102.28
12
14
Ush1c Genetics information (-)
GRCm39
Sequence Homology
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Transcript
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* This data comes from NCBI.
Gene Expression
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