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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
MACF1 - Microtubule Actin Crosslinking Factor 1
Alias:
ACF7
LIS9
MACF
OFC4
ABP620
KIAA0754
Lnc-PMIF
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含大量血红蛋白和亮氨酸丰富重复(LRR)域的大蛋白质。编码的蛋白质是一个家族的蛋白质,该家族的蛋白质在不同的细胞骨架元素之间形成桥梁。这种蛋白质在细胞边缘促进肌动蛋白-微管相互作用,并将微管网络与细胞连接耦合。替代剪接产生多个转录变体,但其中一些变体的全长性质尚未确定。[由RefSeq提供,2013年5月]
Related ID:
NCBI:23499
ENSEMBL:ENSG00000127603
HGNC:13664
UNIPROT:O94854
OMIM:608271
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23499
3
101
402972 bp
838.31
884
2
7
25
MACF1 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
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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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