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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
DEFA4 - Defensin Alpha 4
Alias:
HP4
DEF4
HP-4
HNP-4
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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。防御素家族的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。几个α防御素基因聚集在染色体8上。这个基因与其他家族的基因不同,多了一个83个碱基的片段,这是编码区域内最近一次复制的结果。这个基因编码的蛋白质,防御素α4,在嗜中性粒细胞中发现;它具有抑制皮质激素活性的作用,并抑制促皮质素刺激的皮质酮产生。[RefSeq,2014年10月提供]
Related ID:
NCBI:1669
ENSEMBL:ENSG00000164821
HGNC:2763
UNIPROT:P12838
OMIM:601157
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1669
1
3
2487 bp
10.50
9
--
--
12
DEFA4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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Mutations
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Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
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