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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
BCL2L1 - BCL2 Like 1
Alias:
BCLX
BCL2L
Bcl-X
PPP1R52
BCL-XL/S
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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,作为抗凋亡或促凋亡调节因子参与多种细胞活动。这个基因编码的蛋白质位于线粒体外膜上,已显示可以调节线粒体外膜通道(VDAC)的开放。VDAC调节线粒体膜电位,从而控制线粒体产生的活性氧物种和细胞色素C的释放,两者都是细胞凋亡的有效诱导剂。可变剪接导致多个转录变异体,编码两种不同的异构体。较长的异构体作为凋亡抑制剂,较短的异构体作为凋亡激活剂。[RefSeq,2015年12月提供]
Related ID:
NCBI:598
ENSEMBL:ENSG00000171552
HGNC:992
UNIPROT:Q07817
OMIM:600039
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
598
10
3
59512 bp
26.05
7
--
11
38
BCL2L1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Type
Name
MGI
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Mutations
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CAS Number
Status
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Link
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References Literature
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No Data Found!
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