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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
小鼠
Aff1 - AF4/FMR2 family, member 1
Alias:
Af4
Rob
Mllt2h
9630032B01Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码AF4/淋巴细胞核蛋白家族的一员,该家族蛋白质与人类儿童成淋巴细胞白血病、X染色体脆弱智力障碍和共济失调有关。它是与自发性急性成淋巴细胞白血病相关的常见混合系白血病融合基因。这个家族的成员有三个保守结构域:一个N-端同源结构域,一个AF4/淋巴细胞核蛋白结构域,和一个C-端同源结构域。通过同源重组敲除小鼠基因可以严重影响到淋巴生成中的早期事件,包括前体增殖或招募,但对于终末分化是多余的。此外,常染色体显性错义突变导致包括共济失调和小脑中成人发病的普肯耶细胞丧失在内的几个表型,表明在普肯耶细胞维持和功能中发挥作用。可变剪接导致多个转录变异体。[由RefSeq,2017年7月提供]
Related ID:
NCBI:17355
ENSEMBL:ENSMUSG00000029313
UNIPROT:O88573
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
17355
4
20
162882 bp
Unknown
5
9
Aff1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
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* This data comes from NCBI.
Gene Expression
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Name
MGI
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