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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
MFGE8 - Milk Fat Globule EGF And Factor V/VIII Domain Containing
Alias:
BA46
HMFG
MFGM
SED1
hP47
EDIL1
MFG-E8
SPAG10
OAcGD3S
HsT19888
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个前原蛋白,该前原蛋白在蛋白水解过程中被加工成多个蛋白质产物。主要编码的蛋白质产物是乳铁素,是一种促进吞噬凋亡细胞的膜糖蛋白。该蛋白质还与伤口愈合、自身免疫疾病和癌症有关。乳铁素可以被进一步加工成一个较小的切割产物,即medin,它是主动脉中层淀粉样蛋白(AMA)的主要蛋白质成分。可变剪接导致多个转录变异体。[由RefSeq,2015年7月提供]
Related ID:
NCBI:4240
ENSEMBL:ENSG00000140545
HGNC:7036
UNIPROT:Q08431
OMIM:602281
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4240
9
8
14697 bp
43.10
33
--
8
12
MFGE8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* 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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CAS Number
Status
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Link
No data available
References Literature
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IF
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