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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
CYBB - Cytochrome B-245 Beta Chain
Alias:
CGD
CGDX
NOX2
IMD34
AMCBX2
GP91-1
GP91PHOX
p91-PHOX
GP91-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(-245)由细胞色素bα(CYBA)和β(CYBB)链组成。它被提议作为吞噬细胞杀菌氧化酶系统的主要组成部分。CYBB缺乏是与慢性肉芽肿病(CGD)相关的五种描述的生物化学缺陷之一。在这个紊乱中,吞噬细胞NADPH氧化酶的活性降低;中性粒细胞可以吞噬细菌,但不能在吞噬性空泡中杀死它们。杀死缺陷的原因是细胞呼吸不能增加,从而导致激活的氧气不能输送到吞噬性空泡中。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1536
ENSEMBL:ENSG00000165168
HGNC:2578
UNIPROT:P04839
OMIM:300481
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
1536
2
13
33403 bp
65.34
566
3
11
36
CYBB Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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Status
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