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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
RAB6A - RAB6A, Member RAS Oncogene Family
Alias:
RAB6
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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RAB家族的一员,属于小GTP酶超家族。RAB家族的GTP酶与各种效应物结合,以调节运输载体到受体腔室的定位和融合。这种蛋白质位于高尔基体中,调节逆向(从早期内体和高尔基体到内质网)和顺向(从高尔基体到质膜)的运输。肌球蛋白II是这些过程中该蛋白质的效应物。该蛋白质还通过与细胞蛋白质Bicaudal D1相互作用参与人类巨细胞病毒(HCMV)的组装,Bicaudal D1与HCMV病毒颗粒被膜蛋白pp150相互作用。已经识别出编码不同异构体的多种可变剪接转录变异体。[由RefSeq,2011年8月提供]
Related ID:
NCBI:5870
ENSEMBL:ENSG00000175582
HGNC:9786
UNIPROT:P20340
OMIM:179513
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5870
4
8
85437 bp
23.59
5
--
4
37
RAB6A 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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