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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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BMF - Bcl2 Modifying Factor
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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,并作为抗凋亡或促凋亡调节因子参与多种细胞活动。该蛋白质含有一个BCL2同源结构域3(BH3),已显示其能与BCL2蛋白结合并作为凋亡激活子发挥作用。该蛋白质已被发现与其与动力轻链2的关联而与肌球蛋白V马达隔离,这可能对感知细胞内损伤和触发凋亡非常重要。已经识别出编码不同异构体的可变剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:90427
ENSEMBL:ENSG00000104081
HGNC:24132
UNIPROT:Q96LC9
OMIM:606266
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
90427
20
5
20990 bp
20.51
6
--
8
4
BMF Genetics information (-)
GRCh38
Chr : -
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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