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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
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
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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]
Related ID:
NCBI:79983
ENSEMBL:ENSG00000124429
HGNC:13711
UNIPROT:Q8WVV4
OMIM:300603
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
79983
3
17
102270 bp
68.06
76
1
4
7
POF1B Genetics information (-)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
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