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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
PRDM16 - PR/SET Domain 16
Alias:
MEL1
KMT8F
LVNC8
PFM13
CMD1LL
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
1号染色体和3号染色体的互换易位(t(1;3)(p36;q21))在一部分骨髓增生异常综合症(MDS)和急性髓系白血病(AML)中发生。这个基因位于1p36.3断裂点附近,并且已经被证明在t(1:3)(p36,q21)阳性的MDS/AML中特异性表达。这个基因编码的蛋白质是一个锌指转录因子,并且包含一个N末端PR域。这个易位导致了这个蛋白质的截短版本的过表达,这个版本缺乏PR域,这可能在MDS和AML的发病机制中起重要作用。有报告说,存在编码不同异构体的可变剪接转录变体。[由RefSeq提供,2008年7月]
Related ID:
NCBI:63976
ENSEMBL:ENSG00000142611
HGNC:14000
UNIPROT:Q9HAZ2
OMIM:605557
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
63976
2
17
369419 bp
140.25
1114
4
15
13
PRDM16 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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