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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
ANKS1B - Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1B
Alias:
EB1
AIDA
EB-1
ANKS2
AIDA-1
cajalin-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个主要表达在大脑和睾丸中的多结构域蛋白。这个蛋白与淀粉样前体蛋白(AbetaPP)相互作用,可能参与正常大脑发育和阿尔茨海默病的病理过程。这个基因在伴有t(1;19)易位的预-B细胞急性淋巴细胞白血病患者的表达已经显示升高。这个基因的不同剪接转录变异体(一些具有不同的亚细胞定位,PMID:15004329)已经有所描述。[由RefSeq,2011年8月提供]
Related ID:
NCBI:56899
ENSEMBL:ENSG00000185046
HGNC:24600
UNIPROT:Q7Z6G8
OMIM:607815
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
56899
74
27
1250151 bp
138.07
58
--
3
11
ANKS1B Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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Status
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No data available
References Literature
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