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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
小鼠
Hamp - hepcidin antimicrobial peptide
Alias:
Hepc
Hamp1
Hepc1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码hepcidin,一种抗菌肽和系统铁代谢的主要激素调节因子。编码的前原蛋白在肝细胞中合成,在那里它经历蛋白水解加工,生成二硫键连接的成熟肽,这些肽被分泌到血液中。缺乏编码的蛋白质的小鼠发生多脏器铁过载,脾巨噬细胞得以保留。这个基因的人类同源物的某些突变导致2B型血色素沉着症,也称为青少年血色素沉着症。这个基因位于染色体7上一个相关的hepcidin基因附近。[RefSeq,2016年8月提供]
Related ID:
NCBI:84506
ENSEMBL:ENSMUSG00000050440
UNIPROT:Q9EQ21
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
84506
1
3
1662 bp
9.35
14
7
Hamp Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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