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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
PLPPR5 - Phospholipid Phosphatase Related 5
Alias:
PAP2
PRG5
LPPR5
PAP2D
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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磷酸磷脂酸磷酸酶(PAP)家族的第2类型成员。这个蛋白质家族的所有第2类型成员都含有6个跨膜区域,以及一个共认同义N-糖基化位点。PAP将磷酸磷脂酸转化为二酸甘油酯,并在甘油脂质的新合成中以及通过磷脂酶D介导的受体激活的信号传导中发挥作用。已经表征了编码不同异型体的替代转录剪接变体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:163404
ENSEMBL:ENSG00000117598
HGNC:31703
UNIPROT:Q32ZL2
OMIM:617287
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
163404
3
6
115542 bp
35.43
7
--
6
4
PLPPR5 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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