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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
PAPOLG - Poly(A) Polymerase Gamma
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码聚(A)聚合酶家族的一员,该家族催化DNA/RNA链3'端的独立模板延伸。这种酶在氨基酸水平上与已充分研究的聚(A)聚合酶II(PAPII)有60%的同一性。这两种酶的结构和功能结构域的组织相似。这种酶特异地位于核中,并表现出非特异性的和CPSF(切割和多腺苷酸化特异性因子)/AAUAAA依赖性的多腺苷酸化活性。与位于染色体14上的PAPII基因不同,这个基因位于染色体2上。[由RefSeq,2008年7月提供]
Related ID:
NCBI:64895
ENSEMBL:ENSG00000115421
HGNC:14982
UNIPROT:Q9BWT3
OMIM:616865
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
64895
3
22
45819 bp
82.80
15
--
4
15
PAPOLG Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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