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中文人类
NDUFS7 - NADH:ubiquinone Oxidoreductase Core Subunit S7
Alias:
PSST
CI-20
MY017
MC1DN3
CI-20KD
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这个基因编码的蛋白质是组成线粒体呼吸链复合物之一的亚基。这个蛋白质是复合物I中超过40个亚基之一，复合物I是烟酰胺腺嘌呤二核苷酸（NADH）：泛醌氧化还原酶。这个复合物在线粒体呼吸链中从NADH向泛醌转移电子，泛醌被认为是该酶的直接电子受体。这个基因的突变导致Leigh综合征，原因是线粒体复合物I缺陷，这是一种严重的神经疾病，导致皮质下脑区双侧对称坏死性病变。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NDUFS7 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
