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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
SDHAF1 - Succinate Dehydrogenase Complex Assembly Factor 1
Alias:
LYRM8
MC2DN2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
琥珀酸脱氢酶(SDH)复合体(或复合体II)是线粒体呼吸链的组成部分,由4个独立的亚基组成。这个基因编码的蛋白质位于线粒体中,对SDH的组装是必需的,但在体内不与复合体物理结合。这个基因的突变与SDH缺陷性婴儿白质脑病(线粒体复合体II缺乏症)有关。[RefSeq,2010年3月提供]
Related ID:
NCBI:644096
ENSEMBL:ENSG00000205138
HGNC:33867
UNIPROT:A6NFY7
OMIM:612848
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
644096
1
1
1125 bp
12.81
60
3
3
8
SDHAF1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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