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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
PBX1 - PBX Homeobox 1
Alias:
CAKUHED
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于PBX homeobox家族核蛋白的转录因子。在老鼠中的研究表明,这个基因可能参与骨生成的调节,并对于骨骼模式和编程是必需的。一个涉及这个基因和TCF3/E2A基因的染色体易位,t(1;19),与前B细胞急性淋巴细胞白血病有关。产生的融合蛋白中,E2A的DNA结合结构域被这个蛋白的DNA结合结构域替换,通过组成性激活受PBX蛋白家族调控的基因的转录,从而转化细胞。已经发现这个基因有不同的剪接转录变异体,编码不同的异构体。[RefSeq,2017年6月提供]
Related ID:
NCBI:5087
ENSEMBL:ENSG00000185630
HGNC:8632
UNIPROT:P40424
OMIM:176310
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5087
12
9
326864 bp
46.63
86
4
11
25
PBX1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
No data available
References Literature
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