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中文人类
AFF2 - ALF Transcription Elongation Factor 2
Alias:
FMR2
MRX2
OX19
FMR2P
FRAXE
XLID109
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这个基因编码一个推测的转录激活因子，是AF4-FMR2基因家族的成员。这个基因与染色体X上的叶酸敏感的脆性X E位点相关。脆性X E位点的重复多态性导致这个基因的沉默，引起脆性X E综合症。脆性X E综合症是非综合征性X连锁认知障碍的一种形式。此外，这个基因含有6-25 GCC重复序列，在疾病状态下扩展到大于200个重复。交替剪接导致多个转录变异体。[由RefSeq，2016年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AFF2 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
