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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
LAMTOR2 - Late Endosomal/lysosomal Adaptor, MAPK And MTOR Activator 2
Alias:
p14
ENDAP
ROBLD3
HSPC003
MAPBPIP
MAPKSP1AP
Ragulator2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物与晚期内体膜和溶酶体膜上的小鼠蛋白高度保守。小鼠蛋白与MAPK支架蛋白1相互作用,后者是丝裂原活化蛋白激酶信号通路的一个组成部分。在人类中,这个基因的突变与一种原发性免疫缺陷综合症有关,这表明这个蛋白在内体生物发生中发挥作用。已经发现这个基因有多种转录变异体,编码不同的异构体。[RefSeq,2009年2月提供]
Related ID:
NCBI:28956
ENSEMBL:ENSG00000116586
HGNC:29796
UNIPROT:Q9Y2Q5
OMIM:610389
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
28956
2
4
3725 bp
13.51
42
1
3
26
LAMTOR2 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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