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中文人类
LRPPRC - Leucine Rich Pentatricopeptide Repeat Containing
Alias:
LSFC
GP130
LRP130
MC4DN5
CLONE-23970
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这个基因编码一个富含亮氨酸的蛋白质，具有多个五肽重复序列(PPR)。这个蛋白质的确切功能尚不清楚，但研究表明它可能参与细胞骨架组织、囊泡运输或核基因和线粒体基因的转录调节。该蛋白质主要定位在线粒体中，预测具有一个N端的线粒体定位序列。这个基因的突变与法国加拿大类型的Leigh综合征有关。[RefSeq,2012年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LRPPRC 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
