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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
CHMP4C - Charged Multivesicular Body Protein 4C
Alias:
Shax3
SNF7-3
VPS32C
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
CHMP4C属于染色质修饰蛋白/带电多泡体蛋白(CHMP)家族。这些蛋白质是ESCRT-III(用于运输III的晚期内体分类复合物)的组成部分,该复合物参与表面受体蛋白的降解和内吞多泡体的形成。一些CHMP蛋白具有核质/囊泡分布,其中一种CHMP,CHMP1A(MIM 164010)是MVB形成和细胞周期进程调节所必需的。[由OMIM于2008年3月提供]
Related ID:
NCBI:92421
ENSEMBL:ENSG00000164695
HGNC:30599
UNIPROT:Q96CF2
OMIM:610899
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
92421
1
5
27068 bp
26.41
10
--
6
11
CHMP4C Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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References Literature
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