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中文人类
TWNK - Twinkle MtDNA Helicase
Alias:
PEO
PEO1
SCA8
ATXN8
IOSCA
PEOA3
SANDO
TWINL
MTDPS7
PRLTS5
C10orf2
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这个基因编码一个六聚的DNA解旋酶，它可以解开5'到3'方向的短双链DNA区段，并与线粒体单链DNA结合蛋白和mtDNA聚合酶γ一起，被认为在mtDNA复制中起关键作用。该蛋白定位在线粒体基质和线粒体核粒体中。这个基因的突变导致婴儿起病的脊髓小脑性共济失调（IOSCA）和进行性外展眼肌麻痹（PEO），也与几种线粒体耗竭综合征有关。可变剪接导致多个转录变异体，编码不同的异构体。[由RefSeq，2009年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TWNK 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
