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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
BABAM2 - BRISC And BRCA1 A Complex Member 2
Alias:
BRE
BRCC4
BRCC45
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种抗凋亡的、与死亡受体相关的蛋白质,可以与肿瘤坏死因子受体1相互作用。编码的蛋白质在包括BRCA1-A复合物和BRISC复合物在内的几个蛋白质复合物中作为适配器发挥作用。BRCA1-A复合物具有泛素酶活性,并靶向双链DNA断裂位点,而BRISC复合物具有去泛素酶活性,并涉及有丝分裂纺锤体组装。这个基因在几种癌症中上调。[RefSeq提供,2016年6月]
Related ID:
NCBI:9577
ENSEMBL:ENSG00000158019
HGNC:1106
UNIPROT:Q9NXR7
OMIM:610497
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9577
10
12
450193 bp
43.55
9
--
4
22
BABAM2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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References Literature
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