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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
TM2D1 - TM2 Domain Containing 1
Alias:
BBP
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种β-淀粉样肽结合蛋白。它含有一个与七跨膜结构域G蛋白偶联受体超家族相关的结构模块,已知在异源三聚体G蛋白激活中起着重要作用。β-淀粉样肽已被证实是神经元死亡和阿尔茨海默病中观察到的认知能力下降的致病因素。这个蛋白质可能是神经毒素β-淀粉样肽的一个靶点,可以通过G蛋白调节的细胞死亡程序来调节细胞对β-淀粉样肽毒性的易感性。已经在这个基因中发现了几个转录变异体。[RefSeq,2016年2月提供]
Related ID:
NCBI:83941
ENSEMBL:ENSG00000162604
HGNC:24142
UNIPROT:Q9BX74
OMIM:610080
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
83941
4
7
44096 bp
22.33
11
--
4
4
TM2D1 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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References Literature
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