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中文人类
SDHD - Succinate Dehydrogenase Complex Subunit D
Alias:
PGL
CBT1
CWS3
PGL1
QPs3
SDH4
cybS
CII-4
MC2DN3
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这个基因编码呼吸链复合物II的成员，负责琥珀酸氧化。编码的蛋白质是连接该复合物到线粒体内膜基质侧的两个整合膜蛋白质之一。这个基因的突变与肿瘤的形成有关，包括遗传性副神经节瘤。疾病的传播几乎完全通过父本等位基因发生，表明这个基因座可能是母体印迹的。在染色体1、2、3、7和18上存在这个基因的假基因。选择性剪接导致多个转录变异体。[RefSeq，2013年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SDHD Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
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
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
