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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
EGF - Epidermal Growth Factor
Alias:
URG
HOMG4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个表皮生长因子超家族的成员。编码的前原蛋白在蛋白水解过程中被加工成53个氨基酸的表皮生长因子肽。这个蛋白作为一种强大的细胞有丝分裂因子,在多种细胞类型的生长、增殖和分化中扮演重要角色。这个蛋白通过与高亲和力的细胞表面受体,表皮生长因子受体结合来发挥作用。这个基因的缺陷是导致4型低镁血症的原因。这个基因的失调与某些癌症的生长和进展有关。选择性剪接导致多个转录变异体,至少其中一个编码在蛋白水解过程中被加工的前原蛋白。[由RefSeq,2016年1月提供]
Related ID:
NCBI:1950
ENSEMBL:ENSG00000138798
HGNC:3229
UNIPROT:P01133
OMIM:131530
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1950
4
24
100884 bp
133.99
416
3
3
16
EGF Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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Status
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Link
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References Literature
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