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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
DEFB126 - Defensin Beta 126
Alias:
HBD26
DEFB26
hBD-26
C20orf8
DEFB-26
bA530N10.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
防御素是重要的免疫应答入侵微生物的富含半胱氨酸的阳离子多肽。该基因编码的抗菌蛋白质是分泌型的,是β防御素蛋白质家族的成员。β防御素基因在整个基因组中以几个簇的形式存在,该基因位于20p13处的簇上。编码的蛋白质与来自猕猴的睾丸特异性分泌蛋白(ESP13.2)高度相似。该基因的突变与精子功能受损有关。[RefSeq,2014年11月提供]
Related ID:
NCBI:81623
ENSEMBL:ENSG00000125788
HGNC:15900
UNIPROT:Q9BYW3
OMIM:620131
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
81623
1
2
3162 bp
12.17
6
--
3
10
DEFB126 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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