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中文人类
SDHB - Succinate Dehydrogenase Complex Iron Sulfur Subunit B
Alias:
IP
SDH
CWS2
PGL4
SDH1
SDH2
SDHIP
MC2DN4
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这个肿瘤抑制基因编码了琥珀酸脱氢酶（SDH）酶复合物的铁硫蛋白亚基，该复合物在线粒体中起着关键作用。SDH酶复合物由四个核编码亚基组成。这种酶复合物将琥珀酸转化为富马酸，作为柠檬酸循环的一部分释放电子，酶复合物还提供了一个释放的电子转移到氧化磷酸化途径的附着位点。SDH酶复合物通过其将琥珀酸转化为氧气传感器，稳定缺氧诱导因子1（HIF1）转录因子，从而在氧气相关基因调节中发挥作用。这种基因的散发性和家族性突变会导致副神经节瘤、嗜铬细胞瘤和胃肠间质瘤，支持线粒体功能障碍与肿瘤发生之间的联系。这种基因的突变也被认为是核型4线粒体复合物II缺陷。[由RefSeq提供，2022年6月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SDHB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
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Score
Related Mouse Models
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Name
MGI
Strain of Origin
Publications
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Related Drugs
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CAS Number
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Phase
Link
References Literature
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PMID
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Year
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