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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
BAX - BCL2 Associated X, Apoptosis Regulator
Alias:
BCL2L4
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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BCL2蛋白家族。BCL2家族成员形成异源或同源二聚体,并作为参与多种细胞活动的抗凋亡或促凋亡调节剂。这个蛋白质与BCL2形成异源二聚体,并作为凋亡激活剂发挥作用。BAX与BCL2的结合和比例决定了细胞在受到凋亡刺激后的生存或死亡。这个蛋白质已被报道与线粒体电压依赖性阴离子通道(VDAC)相互作用并增加其开放,从而导致膜电位的丧失和细胞色素c的释放。这个基因的表达受肿瘤抑制子P53的调节,并被证明涉及P53介导的凋亡。这个基因有多个可变剪接转录变异体,它们编码不同的异构体。[RefSeq,2019年12月提供]
Related ID:
NCBI:581
ENSEMBL:ENSG00000087088
HGNC:959
UNIPROT:Q07812
OMIM:600040
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
581
9
6
6924 bp
21.18
15
2
8
39
BAX Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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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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Name
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CAS Number
Status
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Link
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References Literature
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