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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
PIR - Pirin
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码杯针超家族的一员。编码的蛋白质是一种含Fe(II)的核蛋白,在体内所有组织中表达,并集中在点状亚核结构中。与核因子I/CCAAT盒转录因子以及B细胞淋巴瘤3编码的癌蛋白的相互作用表明,该编码蛋白可能作为转录辅因子发挥作用,并参与DNA转录和复制的调节。已经描述了可变剪接的转录本变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8544
ENSEMBL:ENSG00000087842
HGNC:30048
UNIPROT:O00625
OMIM:300931
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8544
2
10
108535 bp
32.11
7
--
2
13
PIR Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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