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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
小鼠
Rab27a - RAB27A, member RAS oncogene family
Alias:
ash
2210402C08Rik
2410003M20Rik
4933437C11Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质是Rab家族蛋白质的一员,这是Ras超家族GTPases中最大的家族。这个基因产物被认为可以调节囊泡运输,与其特定的效应子一起发挥作用。这个基因的突变导致几种缺陷,包括基于肌动蛋白的黑色素体运输缺陷和免疫缺陷。这个基因的人类同源基因的突变与Griscelli综合征2型有关。可变剪接导致多个转录变异体。[由RefSeq,2014年7月提供]
Related ID:
NCBI:11891
ENSEMBL:ENSMUSG00000032202
UNIPROT:Q9ERI2
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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11891
4
6
52814 bp
25.02
11
20
Rab27a Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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