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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
CAPZB - Capping Actin Protein Of Muscle Z-line Subunit Beta
Alias:
CAPB
CAPZ
CAPPB
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了束状端肌动蛋白结合蛋白的β亚基,属于F肌动蛋白帽蛋白家族。帽蛋白是一种异二聚体肌动蛋白帽蛋白,它在快速生长(束状)纤维末端阻断肌动蛋白纤维的装配和解体,并在调节肌动蛋白纤维动力学以及在肌肉和非肌肉细胞中稳定肌动蛋白纤维长度方面发挥作用。这个基因的一个假基因位于2号染色体的长臂上。已经发现了多种可变剪接转录变体,编码不同的等位基因。[由RefSeq提供,2013年8月]
Related ID:
NCBI:832
ENSEMBL:ENSG00000077549
HGNC:1491
UNIPROT:P47756
OMIM:601572
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
832
12
9
146765 bp
30.63
5
--
4
20
CAPZB 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
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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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