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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
MFAP4 - Microfibril Associated Protein 4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与牛微纤维相关蛋白相似的蛋白质。这个蛋白质具有对胶原和碳水化合物两者的结合特异性。被认为是一种细胞外基质蛋白,参与细胞粘附或细胞间相互作用。这个基因位于Smith-Magenis综合征区域内。已经发现这个基因有两个转录变异体,编码不同的异构体。[由RefSeq,2010年11月提供]
Related ID:
NCBI:4239
ENSEMBL:ENSG00000166482
HGNC:7035
UNIPROT:P55083
OMIM:600596
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4239
2
6
3746 bp
28.65
14
--
6
8
MFAP4 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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