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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
MAD2L1BP - MAD2L1 Binding Protein
Alias:
CMT2
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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被鉴定为MAD2有丝分裂停滞缺陷样1(MAD2/MAD2L1)的结合蛋白。MAD2是纺锤体检查点的关键成分,延迟有丝分裂期的开始,直到所有动粒都连接到纺锤体上。这个蛋白质可能与纺锤体检查点相互作用,并在有丝分裂后期的细胞周期事件中协调。观察到了编码不同异构体的可变剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9587
ENSEMBL:ENSG00000124688
HGNC:21059
UNIPROT:Q15013
OMIM:618136
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9587
2
3
11402 bp
31.05
10
--
4
8
MAD2L1BP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
Alphabetical
Cell-specific RNA expression
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Related Mouse Models
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Name
MGI
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References Literature
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No Data Found!
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