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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
FTH1 - Ferritin Heavy Chain 1
Alias:
FHC
FTH
HFE5
PLIF
FTHL6
PIG15
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码铁蛋白的重链,原核生物和真核生物中的主要细胞内铁储存蛋白。它由24个重链和轻链的铁蛋白亚基组成。铁蛋白亚基组成的变化可能会影响不同组织中铁的摄取和释放速度。铁蛋白的主要功能是将铁以可溶且无毒的状态储存。铁蛋白蛋白的缺陷与几种神经退行性疾病有关。这个基因有多个假基因。已经观察到了几种替代剪接的转录变异体,但其生物学有效性尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2495
ENSEMBL:ENSG00000167996
HGNC:3976
UNIPROT:P02794
OMIM:134770
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2495
1
4
3350 bp
21.23
59
7
12
22
FTH1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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