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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
ARMCX2 - Armadillo Repeat Containing X-linked 2
Alias:
ALEX2
GASP9
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有潜在N端跨膜结构域和多个armadillo(arm)重复序列的蛋白质。含有arm重复序列的蛋白质参与发育,维持组织完整性和肿瘤发生。这个基因位于染色体X上的一组相关基因中。在染色体7上有一个这个基因的假基因。5'UTR中的可选剪接导致编码相同蛋白质的多种转录变异体。[由RefSeq,2013年8月提供]
Related ID:
NCBI:9823
ENSEMBL:ENSG00000184867
HGNC:16869
UNIPROT:Q7L311
OMIM:300363
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9823
37
6
4570 bp
65.68
19
--
2
4
ARMCX2 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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