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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
CYBA - Cytochrome B-245 Alpha Chain
Alias:
CGD4
p22-PHOX
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
细胞色素b由轻链(alpha)和重链(beta)组成。这个基因编码轻链,alpha亚基,被认为是吞噬细胞杀菌氧化酶系统的主要组成部分。这个基因的突变与常染色体隐性遗传慢性肉芽肿性疾病(CGD)有关,其特点是激活的吞噬细胞不能产生超氧化物,这对于这些细胞的杀菌活性非常重要。[RefSeq,2008年7月提供]
Related ID:
NCBI:1535
ENSEMBL:ENSG00000051523
HGNC:2577
UNIPROT:P13498
OMIM:608508
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1535
2
6
7765 bp
21.01
367
2
8
25
CYBA 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
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Cell-specific RNA expression
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Interactions
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Acting
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Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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