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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
BCL2L12 - BCL2 Like 12
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有Bcl-2同源结构域2(BH2)的蛋白质家族成员。编码的蛋白质是一种抗凋亡因子,在细胞质中作为caspases 3和7的抑制剂发挥作用。在细胞核中,它与p53肿瘤抑制蛋白结合,防止其与目标基因结合。这个基因的过度表达在许多不同类型的癌症中都有检测到。在染色体3上有一个这个基因的假基因。可选的剪接导致多个转录变异体。[由RefSeq,2013年9月提供]
Related ID:
NCBI:83596
ENSEMBL:ENSG00000126453
HGNC:13787
UNIPROT:Q9HB09
OMIM:610837
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
83596
8
7
8775 bp
36.82
20
--
4
15
BCL2L12 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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