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中文人类
MTRFR - Mitochondrial Translation Release Factor In Rescue
Alias:
SPG55
COXPD7
mtRF-R
C12orf65
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这个核基因编码线粒体基质蛋白，似乎参与线粒体翻译机制中的肽链终止。两个不同的1bp缺失（导致相同的过早终止密码子）导致线粒体翻译减少，氧化磷酸化复合物的水平降低，以及肌营养不良。可选的剪接导致多个转录变异体。[由RefSeq，2010年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MTRFR 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
