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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
PML - PML Nuclear Body Scaffold
Alias:
MYL
RNF71
PP8675
TRIM19
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是三部分模体(TRIM)家族的一员。TRIM结构包括三个锌结合结构域,一个RING,一个B框1型和B框2型,以及一个螺旋卷区域。这个磷酸蛋白定位在核体中,作为转录因子和肿瘤抑制因子发挥作用。其表达与细胞周期相关,并调节p53对癌基因信号的响应。该基因通常涉及与视黄酸受体α基因的易位,与急性早幼粒细胞白血病(APL)相关。这个基因的广泛替代剪接产生了蛋白质的中心和C端区域的几个变异;所有变异都编码相同的N端。已经识别出编码不同异型的可变剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5371
ENSEMBL:ENSG00000140464
HGNC:9113
UNIPROT:P29590
OMIM:102578
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5371
9
9
53112 bp
97.55
39
1
9
112
PML Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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