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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
PON2 - Paraoxonase 2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码对氧磷酶基因家族的成员,该家族包括位于染色体7长臂上的相邻的三个已知成员。编码的蛋白在人组织中广泛表达,结合在膜上,可能起到细胞抗氧化作用,保护细胞免受氧化应激。对该酰基高丝氨酸内酯的水解活性,这是重要的细菌群体感应介质,提示编码的蛋白也可能在对抗病原细菌的保护反应中发挥作用。这个基因的突变可能与血管疾病和与糖尿病相关的许多定量表型有关。已经描述了编码不同异型体的可变剪接转录本。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5445
ENSEMBL:ENSG00000105854
HGNC:9205
UNIPROT:Q15165
OMIM:602447
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5445
4
9
30167 bp
39.38
50
1
6
14
PON2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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References Literature
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