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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
CHMP4B - Charged Multivesicular Body Protein 4B
Alias:
SNF7
CTPP3
Shax1
CHMP4A
SNF7-2
VPS32B
CTRCT31
Vps32-2
C20orf178
dJ553F4.4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个染色质修饰蛋白/带电的多囊泡体蛋白(CHMP)蛋白家族的成员。这种蛋白是内质网分选所需运输(ESCRT)复合物III(ESCRT-III)的一部分,负责将内吞的细胞表面受体分类到多囊泡内质网中。ESCRT机制还在有丝分裂的最终分离阶段和在包膜病毒如HIV-1的芽生中发挥作用。CHMP4亚家族的三个蛋白与程序性细胞死亡6相互作用蛋白(PDCD6IP,也称为ALIX)相互作用,PDCD6IP也在ESCRT途径中发挥作用。CHMP4蛋白组装成附着在膜上的5纳米丝状物,形成圆形支架并促进或稳定向外芽生。这些聚合物被认为有助于生成多囊泡体的腔内囊泡。这个基因的突变导致常染色体显性遗传性后极性白内障。[RefSeq,2009年10月提供]
Related ID:
NCBI:128866
ENSEMBL:ENSG00000101421
HGNC:16171
UNIPROT:Q9H444
OMIM:610897
Basic Information
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128866
1
5
43019 bp
24.95
27
3
4
29
CHMP4B Genetics information (+)
GRCh38
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* This data comes from NCBI.
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