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中文人类
AIFM1 - Apoptosis Inducing Factor Mitochondria Associated 1
Alias:
AIF
AUNX1
CMT2D
CMTX4
COWCK
DFNX5
NADMR
NAMSD
PDCD8
COXPD6
SEMDHL
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该基因编码一种在凋亡细胞中解除核组装所必需的黄蛋白，并在健康细胞的线粒体膜间隙中发现。诱导细胞凋亡会导致该蛋白转移到核中，影响染色体浓缩和分裂。此外，该基因产物能诱导线粒体释放细胞色素c和caspase-9等凋亡蛋白。该基因的突变导致严重的线粒体脑肌病6（COXPD6）以及Cowchock综合征，又称X连锁隐性Charcot-Marie-Tooth病-4（CMTX-4），该病导致神经病变、轴突和感觉运动缺陷，伴有耳聋和认知障碍。可变剪接产生多种转录变异体。在染色体10上发现了一个相关的假基因。[RefSeq，2015年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AIFM1 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
