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中文人类
LONP1 - Lon Peptidase 1, Mitochondrial
Alias:
LON
LONP
PIM1
hLON
LonHS
CODASS
PRSS15
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这个基因编码一个属于Lon家族ATP依赖蛋白酶的线粒体基质蛋白。这个蛋白可以介导选择性地降解线粒体基质中错误折叠、未组装或氧化受损的多肽。它可能还具有在内膜蛋白复合体的组装中的分子伴侣功能，并参与线粒体基因表达调控和线粒体基因组完整性的维持。这个基因在患有遗传性痉挛性截瘫的患者中的表达减少已被注意到（PMID: 18378094）。已经发现了这个基因的可变剪接转录变异体。[RefSeq,2013年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LONP1 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
