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中文人类
HAMP - Hepcidin Antimicrobial Peptide
Alias:
HEPC
PLTR
HFE2B
LEAP1
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这个基因编码的产物涉及铁稳态的维持，对巨噬细胞中铁储存的调节以及肠道铁吸收是必需的。前原蛋白在翻译后裂解成20、22和25个氨基酸的成熟肽，这些活性肽富含半胱氨酸，形成稳定其β-片层结构的分子内键。这些肽展示出对抗细菌和真菌的抗菌活性。这个基因的突变导致2B型血色素沉着症，也称为少年血色素沉着症，这是一种由严重铁过载引起的疾病，导致心肌病、肝硬化和内分泌衰竭。[RefSeq，2014年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HAMP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
