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中文人类
MFN2 - Mitofusin 2
Alias:
HSG
MARF
CMT2A
CPRP1
CMT2A2
HMSN6A
CMT2A2A
CMT2A2B
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这个基因编码一种线粒体膜蛋白，参与线粒体融合，并有助于维持和运行线粒体网络。这种蛋白质参与调节血管平滑肌细胞的增殖，可能在肥胖的病理生理中发挥作用。这种基因的突变会导致Charcot-Marie-Tooth病2A2和遗传性运动和感觉神经病VI，这两种都是周围神经系统的疾病。这种基因的缺陷也与早发性中风有关。已识别出两种编码相同蛋白质的转录变体。[由RefSeq提供，2008年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MFN2 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
