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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
Myo7a - myosin VIIA
Alias:
Hdb
sh1
Myo7
sh-1
USH1B
polka
nmf371
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有蛋白质结构域特异性结合活性。参与细胞蛋白质定位。在几个过程的上游或内部发挥作用,包括动物器官形态发生;吞噬溶酶体组装;和色素颗粒运输。位于几个细胞组件中,包括黑色素体;光感受器连接纤毛;和纤毛基部。在纤毛中活跃。在中枢神经系统;肝脏;感器器官;和小肠上皮中表达。用于研究Usher综合症1型和常染色体隐性非综合征性耳聋2型。这个基因的人类同源物涉及Leber先天性夜盲;Usher综合症(多种);听觉系统疾病(多种);和先天性眼球震颤。与人类MYO7A(肌球蛋白VIIA)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:17921
ENSEMBL:ENSMUSG00000030761
UNIPROT:P97479
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
17921
11
49
68470 bp
254.94
25
16
Myo7a Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* 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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Year
IF
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