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中文人类
FMR1 - Fragile X Messenger Ribonucleoprotein 1
Alias:
POF
FMRP
POF1
FRAXA
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这个基因编码的蛋白质与RNA结合，并与多聚核糖体相关。编码的蛋白质可能涉及mRNA从核到细胞质的运输。5'UTR中的三核苷酸重复（CGG）通常含有6-53个拷贝，但扩展到55-230个重复是导致脆性X综合症的原因。三核苷酸重复的扩展也可能导致一种形式的卵巢功能过早停止（POF1）。已经描述了这个基因的不同剪接转录变异体，它们编码不同的蛋白质异构体，并位于不同的细胞位置。[RefSeq,2010年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FMR1 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
