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中文人类
BCS1L - BCS1 Homolog, Ubiquinol-cytochrome C Reductase Complex Chaperone
Alias:
BCS
BJS
PTD
BCS1
FLNMS
h-BCS
MC3DN1
h-BCS1
GRACILE
Hs.6719
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这个基因编码一个与酿酒酵母bcs1蛋白同源的蛋白质，参与线粒体呼吸链复合体III的组装。编码的蛋白质不含线粒体靶向序列，但实验研究证实它会被导入线粒体。这个基因的突变与线粒体复合体III缺陷和GRACILE综合征有关。已经描述了几个可变剪接的转录本，它们编码两种不同的异构体。[由RefSeq，2016年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BCS1L 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
