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中文人类
NFU1 - NFU1 Iron-sulfur Cluster Scaffold
Alias:
Nfu
NifU
HIRIP
MMDFS
MMDS1
NIFUC
CGI-33
HIRIP5
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这个基因编码一个定位于线粒体的蛋白质，在铁硫簇生物生成中扮演关键角色。编码的蛋白质组装并将4Fe-4S簇转移到目标脱辅基蛋白，包括琥珀酸脱氢酶和硫辛酸合成酶。这个基因的突变是导致多重线粒体功能障碍综合症-1的原因，这个基因的假基因位于染色体1和3的短臂上。已经观察到了这个基因的替代剪接转录变异体，编码多种异构体。[由RefSeq提供，2011年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NFU1 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
