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中文人类
FXN - Frataxin
Alias:
FA
X25
CyaY
FARR
FRDA
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这个核基因编码一个属于FRATAXIN家族的线粒体蛋白。该蛋白在调节线粒体铁运输和呼吸作用中发挥作用。内含子三核苷酸重复序列GAA从8-33重复扩展到大于90重复，导致弗里德雷氏共济失调。可变剪接导致多个转录变异体。[由RefSeq，2016年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FXN 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
