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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
VPS33A - VPS33A Core Subunit Of CORVET And HOPS Complexes
Alias:
MPSPS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个锚定蛋白和一个同型融合和蛋白质分类(HOPS)复合体的核心亚基。HOPS复合体和另一个叫做C类核心液泡/内质网锚定(CORVET)复合体的内质网锚定复合体,在内体摄取中执行多种功能,包括膜锚定,RabGTPase相互作用,SNARE组装的激活和校对,以驱动膜融合,以及内质网到细胞骨架的附着。HOPS复合体控制内质网的成熟以及内质网到溶酶体的运输。这个复合体对于液泡融合是必需的,并且对于适配体蛋白复合物3依赖的从高尔基体到液泡的运输是必需的。编码的蛋白质属于Sec1/Munc18(SM)家族,是SNARE介导的膜融合调节剂。自然发生的这个基因的突变与一种新的类似粘多糖贮积病的疾病有关。[RefSeq,2017年4月提供]
Related ID:
NCBI:65082
ENSEMBL:ENSG00000139719
HGNC:18179
UNIPROT:Q96AX1
OMIM:610034
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
65082
5
13
36931 bp
67.61
243
1
5
16
VPS33A Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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