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中文人类
PABPN1 - Poly(A) Binding Protein Nuclear 1
Alias:
OPMD
PAB2
PABII
PABP2
PABP-2
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这个基因编码一种丰富的核蛋白，能够与新生poly(A)尾以高亲和力结合。该蛋白对于真核转录本3'端poly(A)尾的逐步有效聚合是必需的，并控制poly(A)尾的大小约为250nt。在稳态下，该蛋白位于细胞核中，而另一种不同的poly(A)结合蛋白位于细胞质中。这个基因在编码区的5'端含有一个GCG三核苷酸重复序列，该重复序列从正常的6个拷贝扩展到8-13个拷贝，导致常染色体显性眼咽肌营养不良（OPMD）疾病。相关的假基因在染色体19和X上被鉴定。这个基因与相邻的上游BCL2样2（BCL2L2）基因之间也存在读穿转录。[RefSeq提供，2010年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PABPN1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
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Acting
Regulation
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Name
MGI
Strain of Origin
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References Literature
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