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中文人类
IBA57 - Iron-sulfur Cluster Assembly Factor IBA57
Alias:
MMDS3
SPG74
C1orf69
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这个基因编码的蛋白质定位在线粒体，是铁硫簇组装途径的一部分。该编码蛋白质在线粒体4Fe-4S蛋白质的生物合成中起到后期作用。这个基因的缺陷与常染色体隐性痉挛性截瘫-74和多线粒体功能障碍综合征-3有关。已经在这个基因中发现两个编码不同异型的转录变异体。较小的异型可能不会定位到线粒体，因为它缺乏氨基端转运肽。[RefSeq，2015年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
IBA57 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
