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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
PNPLA3 - Patatin Like Phospholipase Domain Containing 3
Alias:
ADPN
C22orf20
iPLA(2)epsilon
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种在三酯甘油脂肪酶,在脂肪细胞中调节三酯甘油的分解。这个编码的蛋白质似乎是膜结合的,可能参与脂肪细胞中能量使用与储存的平衡。[由RefSeq,2008年7月提供]
Related ID:
NCBI:80339
ENSEMBL:ENSG00000100344
HGNC:18590
UNIPROT:Q9NST1
OMIM:609567
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
80339
1
9
23778 bp
52.87
113
--
6
15
PNPLA3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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