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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
TBX5 - T-box Transcription Factor 5
Alias:
HOS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是一个在系统发育上保守的基因家族成员,这些基因共享一个共同的DNA结合结构域,即T-box。T-box基因编码参与调控发育过程的转录因子。这个基因与相关家族成员T-box 3(尺骨乳腺综合征)在人染色体12上紧密连锁。编码的蛋白质可能在心脏发育和肢体特征指定中发挥作用。这个基因的突变与Holt-Oram综合征有关,这是一种影响心脏和上肢的发育紊乱。已描述了这个基因的几个转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6910
ENSEMBL:ENSG00000089225
HGNC:11604
UNIPROT:Q99593
OMIM:601620
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6910
4
9
54532 bp
57.71
588
9
9
17
TBX5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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CDS(bp)
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Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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References Literature
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