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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
Alms1 - ALMS1, centrosome and basal body associated
Alias:
bbb
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有激活α-actinin结合活性。参与冷诱导产热的正向调节。在几个过程的上游或内部发挥作用,包括胆固醇平衡、配子生成和神经元发育。预测在中心粒、中心体和细胞质中活性。在几个结构中表达,包括主动脉、中枢神经系统、生殖泌尿系统、肠道和感觉器官。用于研究Alstrom综合征和肥胖症。该基因的人类同源物与Alstrom综合征有关。与人类ALMS1(ALMS1中心粒和基体相关蛋白)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:236266
ENSEMBL:ENSMUSG00000063810
UNIPROT:Q8K4E0
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
236266
3
23
134492 bp
360.21
15
6
Alms1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Length(nt)
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* This data comes from NCBI.
Gene Expression
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Name
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