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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
BCL2L11 - BCL2 Like 11
Alias:
BAM
BIM
BOD
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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属于BCL-2蛋白家族。BCL-2家族成员形成异源或同源二聚体,并作为涉及多种细胞活动的抗凋亡或促凋亡调节因子。这个基因编码的蛋白质含有Bcl-2同源域3(BH3)。已经证明它与其他BCL-2蛋白家族成员相互作用,并作为凋亡激活子发挥作用。这个基因的表达可以由神经生长因子(NGF)以及翼状螺旋转录因子FKHR-L1诱导,这表明这个基因在神经元和淋巴细胞凋亡中发挥作用。小鼠对应物的转基因研究表明,这个基因在胸腺细胞的阴性选择中作为凋亡的必需起始因子发挥作用。已经发现了这个基因的几个可变剪接转录变异体。[RefSeq,2013年6月提供]
Related ID:
NCBI:10018
ENSEMBL:ENSG00000153094
HGNC:994
UNIPROT:O43521
OMIM:603827
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10018
31
4
47532 bp
22.17
11
--
25
23
BCL2L11 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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