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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
PDCD6IP - Programmed Cell Death 6 Interacting Protein
Alias:
AIP1
ALIX
HP95
DRIP4
MCPH29
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个在细胞分裂的分离阶段、内腔内囊泡形成过程中以及包膜病毒芽生中在ESCRT途径内发挥功能的蛋白质。使用小鼠细胞的研究表明,这个蛋白质的过度表达可以阻断细胞凋亡。此外,这个基因的产物以钙依赖的方式与PDCD6基因的产物结合,PDCD6基因的产物是细胞凋亡所必需的。这个基因产物还可以与内亲和素结合,内亲和素是在内吞作用过程中调节膜形状的蛋白质。这个基因产物的过度表达和内亲和素的过度表达导致细胞质内泡状空化,这可能部分地解释了抗细胞死亡的保护作用。已经发现这个基因的几个可变剪接转录变异体,编码不同的异构体。在染色体15上已经发现了相关的假基因。[由RefSeq,2012年1月提供]
Related ID:
NCBI:10015
ENSEMBL:ENSG00000170248
HGNC:8766
UNIPROT:Q8WUM4
OMIM:608074
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10015
5
18
71074 bp
96.02
28
1
6
45
PDCD6IP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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