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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
PLSCR2 - Phospholipid Scramblase 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
这个基因编码磷脂酰肌醇穿梭蛋白家族的一员。磷脂酰肌醇穿梭蛋白是介导钙依赖的非特异性质膜磷脂和磷脂酰丝氨酸运动的膜蛋白。编码的蛋白质含有低亲和力的钙结合基序,可能参与血液凝固和凋亡。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq,2011年1月提供]
Related ID:
NCBI:57047
ENSEMBL:ENSG00000163746
HGNC:16494
UNIPROT:Q9NRY7
OMIM:607610
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57047
21
8
104572 bp
33.50
6
--
4
5
PLSCR2 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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References Literature
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