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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
DEFB105B - Defensin Beta 105B
Alias:
BD-5
DEFB-5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
抗菌和细胞毒性肽家族由中性粒细胞产生。防御素是短小的已加工肽分子,根据结构分为三个组:α防御素、β防御素和θ防御素。所有β防御素基因在四个到五个合成的染色体区域中密集聚集。染色体8p23至少包含β防御素簇的两个复制副本。这种复制导致防御素β105的两个相同副本,DEFB105A和DEFB105B,以尾对尾的取向存在。这个基因DEFB105B代表了更端部的拷贝。[RefSeq,2014年10月提供]
Related ID:
NCBI:504180
ENSEMBL:ENSG00000186599
HGNC:29930
UNIPROT:Q8NG35
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
504180
1
3
1915 bp
8.92
1
--
--
3
DEFB105B Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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