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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
Smarcad1 - SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Alias:
Etl1
etl-1
D6Pas1
mKIAA1122
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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预测能够激活ATP依赖的活性,作用于DNA;具有DNA结合活性;以及染色质结合活性。参与多个过程,包括DNA双链断裂处理;染色体分离;组蛋白去乙酰化。在DNA修复和染色质组织中起上游或内部作用。位于异染色质和细胞核中。在包括消化系统;中枢神经系统;眼睛;生殖泌尿系统;和皮肤系统在内的几个结构中表达。用于研究窒息性胸肌营养不良。该基因的人类同源物与BASAN综合征和无皮肤纹症有关。与人类SMARCAD1(SWI/SNF相关,与染色质相关的矩阵关联的肌动蛋白依赖性染色质调节子,含DEAD/H盒1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:13990
ENSEMBL:ENSMUSG00000029920
UNIPROT:Q04692
Basic Information
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13990
13
24
73469 bp
116.45
5
11
Smarcad1 Genetics information (+)
GRCm39
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* This data comes from NCBI.
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