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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
PAFAH2 - Platelet Activating Factor Acetylhydrolase 2
Alias:
HSD-PLA2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码血小板活化因子乙酰水解酶同工酶2,这是一种单体细胞内酶,催化血小板活化因子(被识别为1-O-烷基-2-乙酰基-sn-甘油-3-磷酸胆碱)SN-2位置上的乙酰基团的去除。然而,这种脂酶的底物特异性比仅仅血小板活化因子更广泛。存在两种其他细胞内血小板活化因子乙酰水解酶同工酶,两者都是多体酶。此外,这种酶还存在一种单体血清同工酶。[由RefSeq提供,2008年7月]
Related ID:
NCBI:5051
ENSEMBL:ENSG00000158006
HGNC:8579
UNIPROT:Q99487
OMIM:602344
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
5051
6
11
38297 bp
44.04
12
--
4
5
PAFAH2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
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References Literature
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