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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
DEFA1B - Defensin Alpha 1B
Alias:
HP1
HP-1
HNP-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
防御素是一类抗微生物和细胞毒性肽,被认为参与宿主防御。它们在嗜中性粒细胞的颗粒中丰富,也存在于黏膜表面的上皮中,如肠道、呼吸道、泌尿道和阴道。防御素家族成员在蛋白质序列上高度相似,由一个保守的半胱氨酸基序区分。这个基因编码的蛋白质,防御素α1,存在于嗜中性粒细胞的杀菌颗粒中,可能参与吞噬细胞介导的宿主防御。几个α防御素基因聚集在染色体8上。这个基因与防御素α3只有一个氨基酸差异。这个基因和编码防御素α3的基因都受到拷贝数变异的影响。已经发现这个基因有两个转录变异体,编码不同的异构体。[RefSeq,2014年10月提供]
Related ID:
NCBI:728358
ENSEMBL:ENSG00000240247
HGNC:33596
UNIPROT:P59665
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
728358
2
3
2433 bp
10.20
--
--
1
26
DEFA1B Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Type
Name
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Status
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Link
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References Literature
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