SDHAF1 - succinate dehydrogenase complex assembly factor 1 Gene

中文名称：琥珀酸脱氢酶复合物组装因子 1

种属: Homo sapiens

同用名: LYRM8; MC2DN2

基因 ID: 644096 | 基因类型: protein coding

关于 SDHAF1

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,995,188-35,996,312 (from NCBI)

This gene has 1 transcript (splice variant), 73 orthologues, 1 paralogue and is associated with 3 phenotypes.

功能概要

线粒体呼吸链的琥珀酸脱氢酶 (SDH) 复合物 (或复合物 II) 由 4 个独立的亚基组成。由该基因编码的蛋白质存在于线粒体中，对 SDH 组装至关重要，但在体内与复合体没有物理关联。该基因的突变与 SDH 缺陷型婴儿白质脑病 (线粒体复合物 II 缺陷) 有关。[RefSeq 提供，2010 年 3 月]

The Succinate Dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]

SDHAF1 基因产物(1)

mRNA	Protein	Name
NM_001042631.3	NP_001036096.2	succinate dehydrogenase assembly factor 1, mitochondrial

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	24606901	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitochondrial respiratory chain complex II assembly	IMP IMP: 通过突变表型推断	19465911	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrion	IDA IDA: 通过直接分析推断	19465911	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SDHAF1 蛋白结构

Complex1_LYR

0
100
115 a.a.

蛋白主名

其他名称

succinate dehydrogenase assembly factor 1, mitochondrial

LYR motif containing 8

SDHAF1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SDHAF1	A6NFY7	SDHB	Homo sapiens	P21912	Anti Bait CoIP	26749241
种属内	SDHAF1	A6NFY7	SDHB	Homo sapiens	P21912	Anti Tag CoIP	26749241
种属内	SDHAF1	A6NFY7	SDHB	Homo sapiens	P21912	Anti Tag CoIP	33961781
种属内	SDHAF1	A6NFY7	HSCB	Homo sapiens	Q8IWL3	Anti Bait CoIP	26749241
种属内	SDHAF1	A6NFY7	HSCB	Homo sapiens	Q8IWL3	Anti Tag CoIP	26749241
种属内	SDHAF1	A6NFY7	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
种属内	SDHAF1	A6NFY7	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
种属内	SDHAF1	A6NFY7	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
种属内	SDHAF1	A6NFY7	CIDEB	Homo sapiens	Q9UHD4	Validated Y2H	32296183
种属内	SDHAF1	A6NFY7	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
种属内	SDHAF1	A6NFY7	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Mitochondrial Complex Ii Deficiency, Nuclear Type 2

MC2DN2

Mitochondrial Complex 2 Deficiency, Nuclear Type 2

Mitochondrial Complex Ii Deficiency

Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency	Isolated Succinate-Coenzyme Q Reductase Deficiency
Isolated Succinate-Coq Reductase Deficiency	Isolated Succinate-Ubiquinone Reductase Deficiency
Mitochondrial Respiratory Chain Complex Ii Deficiency	Complex 2 Mitochondrial Respiratory Chain Deficiency
Succinate Coq Reductase Deficiency	Succinate Dehydrogenase Deficiency
Isolated Succinate Dehydrogenase Deficiency	Succinate-Coenzyme Q Reductase Deficiency

Mitochondrial Complex Ii Deficiency, Nuclear Type 1

MC1DN2	MC2DN1
Succinate Coq Reductase Deficiency	Succinate Dehydrogenase Deficiency
Mitochondrial Complex I Deficiency, Nuclear Type 2	Mitochondrial Complex 1 Deficiency, Nuclear Type 2
Nuclear Type Mitochondrial Complex I Deficiency 2	Complex 2 Mitochondrial Respiratory Chain Deficiency
Complex Ii Mitochondrial Respiratory Chain Deficiency	Sdh-Defective Infantile Leukoencephalopathy

Kearns-Sayre Syndrome

Ophthalmoplegia	Mitochondrial Cytopathy
KSS	Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
Oculocraniosomatic Syndrome	Chronic Progressive External Ophthalmoplegia With Myopathy
Cpeo With Myopathy	Total Ophthalmoplegia
Ophthalmoplegia-Plus Syndrome	Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
Cpeo With Ragged-Red Fibers	Oculomotor Paralysis
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O	Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia	Cpeo With Ragged Red Fibers
Ophthalmoplegia Plus Syndrome	Ophthalmoplegia, Progressive External, With Ragged Red Fibers
Kearns-Sayre Mitochondrial Cytopathy	Mitochondrial Myopathies

Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract	HLD5
Hypomyelination-Congenital Cataract Syndrome	Hypomyelinating Leukodystrophy 5
Hcc	Hypomyelination And Congenital Cataract: Hcc
Hypomyelination - Congenital Cataract	Hypomyelination With Congenital Cataract

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy	Quadriplegic Infantile Cerebral Palsy
Tetraplegic Infantile Cerebral Palsy	Cerebral Palsy Spastic Quadriplegic
Quadriplegic Cerebral Palsy	Spastic Quadriplegia Cerebral Palsy
Spastic Tetraplegia Cerebral Palsy	Cerebral Palsy, Quadriplegic, Infantile
Cerebral Palsy With Spastic Tetraplegia	Congenital Spastic Quadriplegia
Spastic Tetraplegic Cerebral Palsy	Congenital Quadriplegia Nos
Tetraplegic Cerebral Palsy

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Fumarase Deficiency

Fumaric Aciduria	FMRD
Fumarate Hydratase Deficiency	Deficiency, Fumarase

Gracile Syndrome

Finnish Lethal Neonatal Metabolic Syndrome	Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death
Flnms	Fellman Syndrome
Fellman Disease	Finnish Lactic Acidosis With Hepatic Hemosiderosis
Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome	Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
Lactic Acidosis, Finnish, With Hepatic Hemosiderosis	Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death
GRACILE

Quadriplegia

Tetraplegia

Tetraplegias

Infantile Cerebellar-Retinal Degeneration

ICRD	Infantile Cerebellar Retinal Degeneration
Degeneration, Cerebellar-Retinal, Infantile

Combined D-2- And L-2-Hydroxyglutaric Aciduria

D,L-2-Hydroxyglutaric Aciduria	D2L2AD
Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia	Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria
D,L-2-Hga	D,L-2-Hydroxyglutaric Acidemia
Combined D,L-2-Hydroxyglutaric Aciduria

Persistent Generalized Lymphadenopathy

Pgl	Persistant Generalized Lymphadenopathy

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency	Fatal Infantile Cox Deficiency
Fatal Infantile Cytochrome C Oxidase Deficiency	Fatal Infantile Encephalocardiomyopathy

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Gastrointestinal Stromal Tumor

GIST	Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Sarcoma	Gastrointestinal Stromal Tumor, Familial
Gant	Gastrointestinal Stromal Tumour
Stromal Tumor Of Gastrointestinal Tract	Stromal Tumour Of Gastrointestinal Tract
Gastrointestinal Stromal Neoplasm	Paraganglioma And Gastric Stromal Sarcoma
Plexosarcoma

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12591	SDHAF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	SDHAF1	VGNC	VGNC:64950
Rattus norvegicus	SDHAF1	RGD	RGD:1562079
Mus musculus	SDHAF1	MGD	MGI:1915582
Bos taurus	SDHAF1	VGNC	VGNC:34389

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