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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
SDHC - Succinate Dehydrogenase Complex Subunit C
Alias:
CYBL
PGL3
QPS1
SDH3
CYB560
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码四个核编码的组分之一,这些组分构成了琥珀酸脱氢酶,也称为线粒体复合物II,它是三羧酸循环和线粒体需氧呼吸链的关键酶复合物。编码的蛋白质是两种将复合物的其他亚基固定到内质网膜上的整合膜蛋白质之一,这些亚基形成了催化核心。在不同的染色体上有几个这个基因的相关假基因。这个基因的突变与副神经节瘤有关。已经描述了可选择的剪接转录变异体。[RefSeq,2013年5月提供]
Related ID:
NCBI:6391
ENSEMBL:ENSG00000143252
HGNC:10682
UNIPROT:Q99643
OMIM:602413
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6391
12
6
48826 bp
18.61
728
5
5
11
SDHC Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
MGI
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References Literature
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