人类

POF1B - POF1B Actin Binding Protein

Alias:
POF
POF2B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
早发性卵巢功能不全(POF)是指女性在40岁以下出现原发性或继发性闭经。通过X-常染色体易位断裂点图谱,已经发现了两个与POF易感性相关的区域,称为“POF1”和“POF2”。POF1从Xq21-qter延伸,而POF2从Xq13.3延伸到Xq21.1。这个基因,POF1B,位于POF2区域。这个基因在小鼠妊娠前卵巢中以痕量表达,在成人卵巢中几乎无法检测或缺失,分别在人和小鼠中都是如此。这个基因的表达仅限于上皮,其最高表达在表皮、口咽和胃肠道中。这个基因编码的蛋白质结合非肌肉肌动蛋白丝。这个基因在早发性卵巢功能不全的病因中可能发挥的作用可能仍有待确定。[由RefSeq,2010年1月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3
17
102270 bp
68.06
76
1
4
7

POF1B Genetics information (-)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* 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
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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Sequence
Comparison
Al agent
Tutorials
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