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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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人类
IKZF1 - IKAROS Family Zinc Finger 1
Alias:
IK1
LYF1
LyF-1
CVID13
IKAROS
PPP1R92
PRO0758
ZNFN1A1
Hs.54452
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个转录因子,属于锌指DNA结合蛋白质家族,与染色质重塑相关。这个蛋白质的表达仅限于胎儿和成人造血淋巴系统,作为淋巴细胞分化的调节因子。这个基因的多个可变剪接转录变异体已经描述,编码不同的异构体。大多数异构体共享一个共同的C-端结构域,包含两个锌指基序,这些基序对于异源或同源二聚化以及与其它蛋白质的相互作用是必需的。然而,异构体在结合DNA的N-端锌指基序数量和核定位信号的存在上有所不同,导致具有和没有DNA结合特性的成员。只有少数异构体含有必需的三个或更多N-端锌指基序,这些基序与目标基因启动子的特定核心DNA序列元素具有高亲和力结合。非DNA结合异构体主要存在于细胞质中,被认为作为显性负因子发挥作用。某些显性负异构体的过表达与B细胞恶性肿瘤如急性淋巴细胞性白血病(ALL)有关。[由RefSeq,2014年5月提供]
Related ID:
NCBI:10320
ENSEMBL:ENSG00000185811
HGNC:13176
UNIPROT:Q13422
OMIM:603023
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10320
62
8
101647 bp
57.53
185
4
19
21
IKZF1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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