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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
TFR2 - Transferrin Receptor 2
Alias:
HFE3
TFRC2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个单跨类型的II膜蛋白,是转铁蛋白受体样家族的成员。这个蛋白调节细胞对结合转铁蛋白的铁的摄取,可能涉及铁代谢、肝细胞功能和红细胞分化。这个基因的突变与遗传性血色素沉着症III型有关。这个基因的不同剪接转录变异体已经描述过,它们编码不同的异构体。[由RefSeq提供,2011年5月]
Related ID:
NCBI:7036
ENSEMBL:ENSG00000106327
HGNC:11762
UNIPROT:Q9UP52
OMIM:604720
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7036
2
18
21133 bp
88.75
678
4
10
12
TFR2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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Protein
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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