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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
人类
ERCC6L - ERCC Excision Repair 6 Like, Spindle Assembly Checkpoint Helicase
Alias:
PICH
RAD26L
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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References Literature
这个基因编码SWItch/Sucrose Non-Fermentable (SWI/SNF2)家族蛋白质的一员,包含一个SNF2样ATP酶结构域和一个PICH家族结构域。这个SWI/SNF蛋白质家族成员的一个显著特点是,在细胞间期,蛋白质被排除在细胞核外,只有在核膜破裂后才会与染色质结合。这个蛋白质是一个DNA转运蛋白,被认为可以与暴露在外部拉伸力下的双链DNA结合,例如有丝分裂纺锤体施加的力量。这个蛋白质与核糖体DNA和超细DNA桥(UFBs)结合,这些细小的结构在有些位置如脆弱部位、端粒和着丝粒在细胞分裂前解决UFBs的ATP酶活性是必需的。这个基因在有丝分裂过程中姐妹染色单体忠实分离是必需的,并且在胞质分裂前解决UFBs所需的蛋白质的ATP酶活性也是必需的。[由RefSeq,2017年5月提供]
Related ID:
NCBI:54821
ENSEMBL:ENSG00000186871
HGNC:20794
UNIPROT:Q2NKX8
OMIM:300687
Basic Information
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Transcripts
Exons
Length
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Mutations
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Reference
54821
2
2
34363 bp
141.10
29
--
3
18
ERCC6L Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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