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中文人类
ERCC6L2 - ERCC Excision Repair 6 Like 2
Alias:
HEBO
BMFS2
SR278
RAD26L
C9orf102
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这个基因编码Snf2家族的一员，类似于解旋酶蛋白。编码的蛋白质可能在DNA修复和线粒体功能中发挥作用。这个基因的突变与骨髓衰竭综合症2有关。已经描述了编码不同蛋白质异型的可变剪接转录变异体。[由RefSeq，2014年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ERCC6L2 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
