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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
PAX5 - Paired Box 5
Alias:
ALL3
BSAP
PAX-5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个配对盒(PAX)家族转录因子成员。这个基因家族的核心特征是一个新颖的、高度保守的DNA结合基序,称为配对盒。配对盒转录因子是早期发育中的重要调节因子,其基因表达的改变被认为有助于肿瘤转化。这个基因编码B细胞谱系特异性激活蛋白,在B细胞分化的早期阶段表达,但在晚期不表达。其表达也在发育中的CNS和睾丸中检测到,因此编码的蛋白质也可能在神经发育和精子发生中发挥作用。这个基因位于9p13上,涉及在浆细胞样亚型的小淋巴细胞淋巴瘤和衍生的大细胞淋巴瘤中反复发生的t(9;14)(p13;q32)易位。这个易位将IgH基因的强力E-mu增强子带入PAX5启动子的紧邻位置,提示这个基因的转录失调参与了这些淋巴瘤的病理发生。可变剪接导致多个转录变异体,编码不同的异构体。[由RefSeq,2013年7月提供]
Related ID:
NCBI:5079
ENSEMBL:ENSG00000196092
HGNC:8619
UNIPROT:Q02548
OMIM:167414
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5079
11
10
201000 bp
42.15
150
3
18
14
PAX5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Type
Name
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