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中文人类
NDUFV1 - NADH:ubiquinone Oxidoreductase Core Subunit V1
Alias:
UQOR1
CI-51K
CI51KD
MC1DN4
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线粒体呼吸链通过氧化磷酸化向细胞提供能量，由四个膜结合的电子传输蛋白复合物（I-IV）和一个ATP合成酶（复合物V）组成。这个基因编码NADH:泛醌氧化还原酶复合物I的一个51kDa亚基；一个具有至少45个核和线粒体编码亚基的大复合物，从NADH释放电子并将其传输到泛醌。这个亚基携带NADH结合位点以及黄素单核苷酸（FMN）和Fe-S结合位点。复合物I的缺陷是线粒体功能失调的常见原因，这是一种在约10,000例活产中发生1例的综合征。线粒体复合物I缺乏与肌病、脑肌病和神经退行性疾病如帕金森病和Leigh综合征有关。可变剪接产生编码不同异质体的多种转录变异体。[RefSeq，2009年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NDUFV1 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
