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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
CBFB - Core-binding Factor Subunit Beta
Alias:
CLCD2
PEBP2B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是异源二聚核心结合转录因子β亚基,属于PEBP2/CBF转录因子家族,主导调控一系列特定于造血作用(如RUNX1)和骨生成(如RUNX2)的基因。β亚基是一个非DNA结合调节亚基,通过异构化增强α亚基与各种增强子和启动子的核心位点的结合,包括鼠白血病病毒、多瘤病毒增强子、T细胞受体增强子和GM-CSF启动子。可变剪接产生两种mRNA变体,各自编码不同的羧基端。在某些情况下,染色体16的臂间倒位[inv(16)(p13q22)]产生一个由核心结合因子β的N端与平滑肌肌动蛋白重链11的C端融合而成的嵌合转录本。这种染色体重排与M4Eo亚型的急性粒细胞白血病相关。已发现这个基因编码两种不同异型的转录变体。[RefSeq,2008年7月提供]
Related ID:
NCBI:865
ENSEMBL:ENSG00000067955
HGNC:1539
UNIPROT:Q13951
OMIM:121360
Basic Information
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Exons
Length
MW (kDa)
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865
6
6
71910 bp
21.51
12
2
19
14
CBFB Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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