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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
MAEA - Macrophage Erythroblast Attacher, E3 Ubiquitin Ligase
Alias:
EMP
EMLP
GID9
PIG5
HLC-10
P44EMLP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个蛋白质,该蛋白质介导红细胞前体细胞与巨噬细胞的附着。这种附着促进红细胞前体细胞的终末成熟和核脱落,可能是通过抑制凋亡。编码的蛋白质是一个整合膜蛋白,N端位于细胞外侧,C端位于细胞内侧。可变剪接产生多个转录变异体。[RefSeq,2014年7月提供]
Related ID:
NCBI:10296
ENSEMBL:ENSG00000090316
HGNC:13731
UNIPROT:Q7L5Y9
OMIM:606801
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10296
11
9
50247 bp
45.29
9
--
7
11
MAEA 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
Alphabetical
Interactions
Reset
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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