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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
Myo5a - myosin VA
Alias:
d
Dbv
MVa
flr
Myo5
MyoVA
Sev-1
flail
d-120J
9630007J19Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活多种功能,包括钙调素结合活性;无序结构域特异性结合活性;和小GTP酶结合活性。参与多个过程,包括细胞对胰岛素刺激的响应;内质网定位到突触后的建立;以及调节突触后细胞质钙离子的浓度。在几个过程的上游或内部发挥作用,包括黑色素体运输;调节肌醇1,4,5-三磷酸敏感的钙释放通道的活性;以及细胞分泌。位于几个细胞组件中,包括胞质囊泡;细胞骨架;和光感受器外段。是非规范肌球蛋白复合物的一部分。在谷氨酸能突触和突触后活性。在神经系统和视网膜中表达。用于研究Griscelli综合征1型。该基因的人类同源物涉及Griscelli综合征1型。与人类MYO5A(肌球蛋白VA)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:17918
ENSEMBL:ENSMUSG00000034593
UNIPROT:Q99104
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
17918
10
41
155788 bp
215.54
109
12
Myo5a Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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