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中文人类
DIABLO - Diablo IAP-binding Mitochondrial Protein
Alias:
SMAC
DFNA64
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这个基因编码一种凋亡蛋白(IAP)结合蛋白的抑制剂。当细胞发生凋亡时，编码的线粒体蛋白进入细胞质，通过结合凋亡蛋白抑制剂激活caspases。该编码蛋白的过度表达使肿瘤细胞对凋亡敏感。这个基因的突变与青少年发病的非综合征性耳聋-64有关。选择性剪接导致多个转录变异体，编码不同的异构体。[RefSeq,2013年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DIABLO Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
